Canonical Allele Identifier: CA16618521

Gene: PMS2

Linked Data

• ClinVar Variation Id: 421403
• ClinVar RCV Id: RCV000487083 ; RCV000818334 ; RCV002431407 ; RCV003449212
• dbSNP Id: rs757324104
• gnomAD v4: 7-5995609-G-T
• MyVariant Identifiers: chr7:g.6035240G>T (hg19) ; chr7:g.5995609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5995609G>T , CM000669.2:g.5995609G>T	GRCh38
NC_000007.13:g.6035240G>T , CM000669.1:g.6035240G>T	GRCh37
NC_000007.12:g.6001766G>T	NCBI36
NG_008466.1:g.18498C>A , LRG_161:g.18498C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*299+3499C>A	ENSP00000514615.2:n.*299+3499C>A
ENST00000699840.2:c.825C>A	ENSP00000514638.2:p.Cys275Ter
ENST00000699930.2:c.720C>A	ENSP00000514695.2:p.Cys240Ter
ENST00000406569.8:c.828C>A	ENSP00000514464.1:p.Cys276Ter
ENST00000644110.2:c.*422C>A	ENSP00000496392.2:n.*422C>A
ENST00000699752.1:c.828C>A	ENSP00000514561.1:p.Cys276Ter
ENST00000699753.1:c.*202+1717C>A	ENSP00000514562.1:n.*202+1717C>A
ENST00000699754.1:c.705+3499C>A	ENSP00000514563.1:n.705+3499C>A
ENST00000699755.1:c.*227C>A	ENSP00000514564.1:n.*227C>A
ENST00000699756.1:c.*415C>A	ENSP00000514565.1:n.*415C>A
ENST00000699757.1:c.*85C>A	ENSP00000514566.1:n.*85C>A
ENST00000699758.1:c.*85C>A	ENSP00000514567.1:n.*85C>A
ENST00000699759.1:n.900C>A
ENST00000699760.1:c.510C>A	ENSP00000514568.1:p.Cys170Ter
ENST00000699761.1:c.423C>A	ENSP00000514569.1:p.Cys141Ter
ENST00000699762.1:c.255C>A	ENSP00000514570.1:p.Cys85Ter
ENST00000699763.1:c.423C>A	ENSP00000514571.1:p.Cys141Ter
ENST00000699764.1:c.828C>A	ENSP00000514572.1:p.Cys276Ter
ENST00000699765.1:c.485+1717C>A	ENSP00000514573.1:n.485+1717C>A
ENST00000699766.1:c.828C>A	ENSP00000514574.1:p.Cys276Ter
ENST00000699767.1:c.828C>A	ENSP00000514575.1:p.Cys276Ter
ENST00000699768.1:c.828C>A	ENSP00000514576.1:p.Cys276Ter
ENST00000699811.1:c.423C>A	ENSP00000514614.1:p.Cys141Ter
ENST00000699813.1:n.941C>A
ENST00000699814.1:c.526+3499C>A
ENST00000699815.1:c.*305-1005C>A	ENSP00000514616.1:n.*305-1005C>A
ENST00000699816.1:c.423C>A	ENSP00000514617.1:p.Cys141Ter
ENST00000699817.1:c.*422C>A	ENSP00000514618.1:n.*422C>A
ENST00000699818.1:c.423C>A	ENSP00000514619.1:p.Cys141Ter
ENST00000699819.1:c.*60+1717C>A	ENSP00000514620.1:n.*60+1717C>A
ENST00000699820.1:c.828C>A	ENSP00000514621.1:p.Cys276Ter
ENST00000699821.1:c.423C>A	ENSP00000514622.1:p.Cys141Ter
ENST00000699822.1:c.*280C>A	ENSP00000514623.1:n.*280C>A
ENST00000699823.1:c.423C>A	ENSP00000514624.1:p.Cys141Ter
ENST00000699824.1:c.*331C>A	ENSP00000514625.1:n.*331C>A
ENST00000699825.1:c.423C>A	ENSP00000514626.1:p.Cys141Ter
ENST00000699826.1:c.*227C>A	ENSP00000514627.1:n.*227C>A
ENST00000699827.1:c.660C>A	ENSP00000514628.1:p.Cys220Ter
ENST00000699828.1:c.828C>A	ENSP00000514629.1:p.Cys276Ter
ENST00000699829.1:c.*329C>A	ENSP00000514630.1:n.*329C>A
ENST00000699830.1:c.*227C>A	ENSP00000514631.1:n.*227C>A
ENST00000699833.1:n.2600C>A
ENST00000699837.1:c.423C>A	ENSP00000514635.1:p.Cys141Ter
ENST00000699838.1:c.*728C>A	ENSP00000514636.1:n.*728C>A
ENST00000699839.1:c.1014C>A	ENSP00000514637.1:p.Cys338Ter
ENST00000699840.1:c.825C>A	ENSP00000514638.1:p.Cys275Ter
ENST00000699916.1:c.*85C>A	ENSP00000514684.1:n.*85C>A
ENST00000699917.1:c.*277C>A	ENSP00000514685.1:n.*277C>A
ENST00000699918.1:c.*329C>A	ENSP00000514686.1:n.*329C>A
ENST00000699919.1:c.*415C>A	ENSP00000514687.1:n.*415C>A
ENST00000699920.1:c.*464C>A	ENSP00000514688.1:n.*464C>A
ENST00000699928.1:c.828C>A	ENSP00000514693.1:p.Cys276Ter
ENST00000699929.1:c.*129C>A	ENSP00000514694.1:n.*129C>A
ENST00000699930.1:c.720C>A	ENSP00000514695.1:p.Cys240Ter
ENST00000699931.1:n.939C>A
ENST00000699932.1:c.803+1717C>A	ENSP00000514696.1:n.803+1717C>A
ENST00000699933.1:n.883+1717C>A
ENST00000699951.1:c.803+1717C>A	ENSP00000514706.1:n.803+1717C>A
ENST00000699952.1:c.803+1717C>A	ENSP00000514707.1:n.803+1717C>A
ENST00000699953.1:c.730C>A	ENSP00000514708.1:p.His244Asn
ENST00000699954.1:c.*129C>A	ENSP00000514709.1:n.*129C>A
ENST00000265849.12:c.828C>A MANE Select	ENSP00000265849.7:p.Cys276Ter
ENST00000642292.1:c.423C>A	ENSP00000495524.1:p.Cys141Ter
ENST00000642456.1:c.423C>A	ENSP00000493814.1:p.Cys141Ter
ENST00000643595.1:c.*227C>A	ENSP00000494497.1:n.*227C>A
ENST00000644110.1:c.510C>A	ENSP00000496392.1:p.Cys170Ter
ENST00000265849.11:c.828C>A	ENSP00000265849.7:p.Cys276Ter
ENST00000382321.5:c.803+1717C>A	ENSP00000371758.4:n.803+1717C>A
ENST00000406569.7:n.828C>A
ENST00000441476.6:c.510C>A	ENSP00000392843.2:p.Cys170Ter
ENST00000469652.1:n.62+10384C>A
NM_000535.5:c.828C>A , LRG_161t1:c.828C>A	NP_000526.1:p.Cys276Ter
NR_003085.2:n.910C>A
XM_006715742.2:c.822C>A	XP_006715805.1:p.Cys274Ter
XM_011515427.1:c.873C>A	XP_011513729.1:p.Cys291Ter
XM_011515428.1:c.873C>A	XP_011513730.1:p.Cys291Ter
XM_011515429.1:c.510C>A	XP_011513731.1:p.Cys170Ter
XM_011515430.1:c.510C>A	XP_011513732.1:p.Cys170Ter
NM_000535.6:c.828C>A	NP_000526.2:p.Cys276Ter
NM_001322003.1:c.423C>A	NP_001308932.1:p.Cys141Ter
NM_001322004.1:c.423C>A	NP_001308933.1:p.Cys141Ter
NM_001322005.1:c.423C>A	NP_001308934.1:p.Cys141Ter
NM_001322006.1:c.828C>A	NP_001308935.1:p.Cys276Ter
NM_001322007.1:c.510C>A	NP_001308936.1:p.Cys170Ter
NM_001322008.1:c.510C>A	NP_001308937.1:p.Cys170Ter
NM_001322009.1:c.423C>A	NP_001308938.1:p.Cys141Ter
NM_001322010.1:c.423C>A	NP_001308939.1:p.Cys141Ter
NM_001322011.1:c.-106C>A	NP_001308940.1:n.-106C>A
NM_001322012.1:c.-106C>A	NP_001308941.1:n.-106C>A
NM_001322013.1:c.255C>A	NP_001308942.1:p.Cys85Ter
NM_001322014.1:c.828C>A	NP_001308943.1:p.Cys276Ter
NM_001322015.1:c.519C>A	NP_001308944.1:p.Cys173Ter
NR_136154.1:n.915C>A
XM_017012342.2:c.-31+1717C>A	XP_016867831.1:n.-31+1717C>A
XM_024446800.1:c.423C>A	XP_024302568.1:p.Cys141Ter
NM_000535.7:c.828C>A MANE Select	NP_000526.2:p.Cys276Ter
NM_001322003.2:c.423C>A	NP_001308932.1:p.Cys141Ter
NM_001322004.2:c.423C>A	NP_001308933.1:p.Cys141Ter
NM_001322005.2:c.423C>A	NP_001308934.1:p.Cys141Ter
NM_001322006.2:c.828C>A	NP_001308935.1:p.Cys276Ter
NM_001322008.2:c.510C>A	NP_001308937.1:p.Cys170Ter
NM_001322009.2:c.423C>A	NP_001308938.1:p.Cys141Ter
NM_001322010.2:c.423C>A	NP_001308939.1:p.Cys141Ter
NM_001322011.2:c.-106C>A	NP_001308940.1:n.-106C>A
NM_001322012.2:c.-106C>A	NP_001308941.1:n.-106C>A
NM_001322013.2:c.255C>A	NP_001308942.1:p.Cys85Ter
NM_001322014.2:c.828C>A	NP_001308943.1:p.Cys276Ter
NM_001322015.2:c.519C>A	NP_001308944.1:p.Cys173Ter
NM_001322007.2:c.510C>A	NP_001308936.1:p.Cys170Ter