Canonical Allele Identifier: CA366742718

Gene: PMS2

Linked Data

• ClinVar Variation Id: 663106
• ClinVar RCV Id: RCV000820908
• dbSNP Id: rs779512948
• MyVariant Identifiers: chr7:g.6029431C>T (hg19) ; chr7:g.5989800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989800C>T , CM000669.2:g.5989800C>T	GRCh38
NC_000007.13:g.6029431C>T , CM000669.1:g.6029431C>T	GRCh37
NC_000007.12:g.5995957C>T	NCBI36
NG_008466.1:g.24307G>A , LRG_161:g.24307G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*540G>A	ENSP00000514615.2:n.*540G>A
ENST00000699840.2:c.1141G>A	ENSP00000514638.2:p.Gly381Ser
ENST00000699930.2:c.1036G>A	ENSP00000514695.2:p.Gly346Ser
ENST00000406569.8:c.1144G>A	ENSP00000514464.1:p.Gly382Ser
ENST00000644110.2:c.*738G>A	ENSP00000496392.2:n.*738G>A
ENST00000699752.1:c.988+2173G>A	ENSP00000514561.1:n.988+2173G>A
ENST00000699753.1:c.*565G>A	ENSP00000514562.1:n.*565G>A
ENST00000699754.1:c.946G>A	ENSP00000514563.1:p.Gly316Ser
ENST00000699755.1:c.*543G>A	ENSP00000514564.1:n.*543G>A
ENST00000699756.1:c.*731G>A	ENSP00000514565.1:n.*731G>A
ENST00000699757.1:c.*401G>A	ENSP00000514566.1:n.*401G>A
ENST00000699758.1:c.*401G>A	ENSP00000514567.1:n.*401G>A
ENST00000699759.1:n.1998G>A
ENST00000699760.1:c.826G>A	ENSP00000514568.1:p.Gly276Ser
ENST00000699761.1:c.739G>A	ENSP00000514569.1:p.Gly247Ser
ENST00000699762.1:c.571G>A	ENSP00000514570.1:p.Gly191Ser
ENST00000699763.1:c.*234G>A	ENSP00000514571.1:n.*234G>A
ENST00000699764.1:c.1144G>A	ENSP00000514572.1:p.Gly382Ser
ENST00000699765.1:c.*240G>A	ENSP00000514573.1:n.*240G>A
ENST00000699766.1:c.1144G>A	ENSP00000514574.1:p.Gly382Ser
ENST00000699767.1:c.1144G>A	ENSP00000514575.1:p.Gly382Ser
ENST00000699768.1:c.1144G>A	ENSP00000514576.1:p.Gly382Ser
ENST00000699811.1:c.739G>A	ENSP00000514614.1:p.Gly247Ser
ENST00000699813.1:n.1257G>A
ENST00000699814.1:c.767G>A
ENST00000699815.1:c.*636G>A	ENSP00000514616.1:n.*636G>A
ENST00000699816.1:c.739G>A	ENSP00000514617.1:p.Gly247Arg
ENST00000699817.1:c.*738G>A	ENSP00000514618.1:n.*738G>A
ENST00000699818.1:c.739G>A	ENSP00000514619.1:p.Gly247Ser
ENST00000699819.1:c.*301G>A	ENSP00000514620.1:n.*301G>A
ENST00000699820.1:c.1144G>A	ENSP00000514621.1:p.Val382Ile
ENST00000699821.1:c.739G>A	ENSP00000514622.1:p.Gly247Ser
ENST00000699822.1:c.*596G>A	ENSP00000514623.1:n.*596G>A
ENST00000699823.1:c.739G>A	ENSP00000514624.1:p.Gly247Ser
ENST00000699824.1:c.*647G>A	ENSP00000514625.1:n.*647G>A
ENST00000699825.1:c.583+2173G>A	ENSP00000514626.1:n.583+2173G>A
ENST00000699826.1:c.*543G>A	ENSP00000514627.1:n.*543G>A
ENST00000699827.1:c.976G>A	ENSP00000514628.1:p.Gly326Ser
ENST00000699828.1:c.*234G>A	ENSP00000514629.1:n.*234G>A
ENST00000699829.1:c.*645G>A	ENSP00000514630.1:n.*645G>A
ENST00000699830.1:c.*543G>A	ENSP00000514631.1:n.*543G>A
ENST00000699833.1:n.2916G>A
ENST00000699837.1:c.739G>A	ENSP00000514635.1:p.Gly247Ser
ENST00000699838.1:c.*1044G>A	ENSP00000514636.1:n.*1044G>A
ENST00000699839.1:c.1330G>A	ENSP00000514637.1:p.Gly444Ser
ENST00000699840.1:c.1141G>A	ENSP00000514638.1:p.Gly381Ser
ENST00000699916.1:c.*401G>A	ENSP00000514684.1:n.*401G>A
ENST00000699917.1:c.*593G>A	ENSP00000514685.1:n.*593G>A
ENST00000699918.1:c.*645G>A	ENSP00000514686.1:n.*645G>A
ENST00000699919.1:c.*731G>A	ENSP00000514687.1:n.*731G>A
ENST00000699920.1:c.*780G>A	ENSP00000514688.1:n.*780G>A
ENST00000699928.1:c.988+2173G>A	ENSP00000514693.1:n.988+2173G>A
ENST00000699929.1:c.*445G>A	ENSP00000514694.1:n.*445G>A
ENST00000699930.1:c.1036G>A	ENSP00000514695.1:p.Gly346Ser
ENST00000699931.1:n.2572G>A
ENST00000699932.1:c.*362G>A	ENSP00000514696.1:n.*362G>A
ENST00000699933.1:n.1124G>A
ENST00000699951.1:c.*240G>A	ENSP00000514706.1:n.*240G>A
ENST00000699952.1:c.803+7526G>A	ENSP00000514707.1:n.803+7526G>A
ENST00000699953.1:c.*251G>A	ENSP00000514708.1:n.*251G>A
ENST00000699954.1:c.*445G>A	ENSP00000514709.1:n.*445G>A
ENST00000265849.12:c.1144G>A MANE Select	ENSP00000265849.7:p.Gly382Ser
ENST00000642292.1:c.739G>A	ENSP00000495524.1:p.Gly247Ser
ENST00000642456.1:c.739G>A	ENSP00000493814.1:p.Gly247Ser
ENST00000643595.1:c.*543G>A	ENSP00000494497.1:n.*543G>A
ENST00000644110.1:c.826G>A	ENSP00000496392.1:p.Gly276Ser
ENST00000265849.11:c.1144G>A	ENSP00000265849.7:p.Gly382Ser
ENST00000382321.5:c.804-6809G>A	ENSP00000371758.4:n.804-6809G>A
ENST00000406569.7:n.1144G>A
ENST00000441476.6:c.826G>A	ENSP00000392843.2:p.Gly276Ser
ENST00000469652.1:n.63-6895G>A
NM_000535.5:c.1144G>A , LRG_161t1:c.1144G>A	NP_000526.1:p.Gly382Ser
NR_003085.2:n.1226G>A
XM_006715742.2:c.1138G>A	XP_006715805.1:p.Gly380Ser
XM_006715744.2:c.211G>A	XP_006715807.1:p.Gly71Ser
XM_011515427.1:c.1189G>A	XP_011513729.1:p.Gly397Ser
XM_011515428.1:c.1033+2173G>A	XP_011513730.1:n.1033+2173G>A
XM_011515429.1:c.826G>A	XP_011513731.1:p.Gly276Ser
XM_011515430.1:c.826G>A	XP_011513732.1:p.Gly276Ser
NM_000535.6:c.1144G>A	NP_000526.2:p.Gly382Ser
NM_001322003.1:c.739G>A	NP_001308932.1:p.Gly247Ser
NM_001322004.1:c.739G>A	NP_001308933.1:p.Gly247Ser
NM_001322005.1:c.739G>A	NP_001308934.1:p.Gly247Ser
NM_001322006.1:c.988+2173G>A	NP_001308935.1:n.988+2173G>A
NM_001322007.1:c.826G>A	NP_001308936.1:p.Gly276Ser
NM_001322008.1:c.826G>A	NP_001308937.1:p.Gly276Ser
NM_001322009.1:c.739G>A	NP_001308938.1:p.Gly247Ser
NM_001322010.1:c.583+2173G>A	NP_001308939.1:n.583+2173G>A
NM_001322011.1:c.211G>A	NP_001308940.1:p.Gly71Ser
NM_001322012.1:c.211G>A	NP_001308941.1:p.Gly71Ser
NM_001322013.1:c.571G>A	NP_001308942.1:p.Gly191Ser
NM_001322014.1:c.1144G>A	NP_001308943.1:p.Gly382Ser
NM_001322015.1:c.835G>A	NP_001308944.1:p.Gly279Ser
NR_136154.1:n.1231G>A
XM_006715744.4:c.211G>A	XP_006715807.1:p.Gly71Ser
XM_017012342.2:c.211G>A	XP_016867831.1:p.Gly71Ser
XM_024446800.1:c.583+2173G>A	XP_024302568.1:n.583+2173G>A
NM_000535.7:c.1144G>A MANE Select	NP_000526.2:p.Gly382Ser
NM_001322003.2:c.739G>A	NP_001308932.1:p.Gly247Ser
NM_001322004.2:c.739G>A	NP_001308933.1:p.Gly247Ser
NM_001322005.2:c.739G>A	NP_001308934.1:p.Gly247Ser
NM_001322006.2:c.988+2173G>A	NP_001308935.1:n.988+2173G>A
NM_001322008.2:c.826G>A	NP_001308937.1:p.Gly276Ser
NM_001322009.2:c.739G>A	NP_001308938.1:p.Gly247Ser
NM_001322010.2:c.583+2173G>A	NP_001308939.1:n.583+2173G>A
NM_001322011.2:c.211G>A	NP_001308940.1:p.Gly71Ser
NM_001322012.2:c.211G>A	NP_001308941.1:p.Gly71Ser
NM_001322013.2:c.571G>A	NP_001308942.1:p.Gly191Ser
NM_001322014.2:c.1144G>A	NP_001308943.1:p.Gly382Ser
NM_001322015.2:c.835G>A	NP_001308944.1:p.Gly279Ser
NM_001322007.2:c.826G>A	NP_001308936.1:p.Gly276Ser