Canonical Allele Identifier: CA366743942

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1018346
• ClinVar RCV Id: RCV001317630
• dbSNP Id: rs1583386594
• gnomAD v4: 7-5999178-T-C
• MyVariant Identifiers: chr7:g.6038809T>C (hg19) ; chr7:g.5999178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5999178T>C , CM000669.2:g.5999178T>C	GRCh38
NC_000007.13:g.6038809T>C , CM000669.1:g.6038809T>C	GRCh37
NC_000007.12:g.6005335T>C	NCBI36
NG_008466.1:g.14929A>G , LRG_161:g.14929A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*229A>G	ENSP00000514615.2:n.*229A>G
ENST00000699840.2:c.632A>G	ENSP00000514638.2:p.Gln211Arg
ENST00000699930.2:c.597+38A>G	ENSP00000514695.2:n.597+38A>G
ENST00000406569.8:c.635A>G	ENSP00000514464.1:p.Gln212Arg
ENST00000644110.2:c.*229A>G	ENSP00000496392.2:n.*229A>G
ENST00000699752.1:c.635A>G	ENSP00000514561.1:p.Gln212Arg
ENST00000699753.1:c.*34A>G	ENSP00000514562.1:n.*34A>G
ENST00000699754.1:c.635A>G	ENSP00000514563.1:p.Gln212Arg
ENST00000699755.1:c.*34A>G	ENSP00000514564.1:n.*34A>G
ENST00000699756.1:c.*222A>G	ENSP00000514565.1:n.*222A>G
ENST00000699757.1:c.84A>G	ENSP00000514566.1:p.Thr28=
ENST00000699758.1:c.348A>G	ENSP00000514567.1:p.Thr116=
ENST00000699759.1:n.707A>G
ENST00000699760.1:c.317A>G	ENSP00000514568.1:p.Gln106Arg
ENST00000699761.1:c.230A>G	ENSP00000514569.1:p.Gln77Arg
ENST00000699762.1:c.133-1755A>G	ENSP00000514570.1:n.133-1755A>G
ENST00000699763.1:c.230A>G	ENSP00000514571.1:p.Gln77Arg
ENST00000699764.1:c.635A>G	ENSP00000514572.1:p.Gln212Arg
ENST00000699765.1:c.317A>G	ENSP00000514573.1:p.Gln106Arg
ENST00000699766.1:c.635A>G	ENSP00000514574.1:p.Gln212Arg
ENST00000699767.1:c.635A>G	ENSP00000514575.1:p.Gln212Arg
ENST00000699768.1:c.635A>G	ENSP00000514576.1:p.Gln212Arg
ENST00000699811.1:c.230A>G	ENSP00000514614.1:p.Gln77Arg
ENST00000699813.1:n.748A>G
ENST00000699814.1:c.456A>G
ENST00000699815.1:c.*136A>G	ENSP00000514616.1:n.*136A>G
ENST00000699816.1:c.230A>G	ENSP00000514617.1:p.Gln77Arg
ENST00000699817.1:c.*229A>G	ENSP00000514618.1:n.*229A>G
ENST00000699818.1:c.230A>G	ENSP00000514619.1:p.Gln77Arg
ENST00000699819.1:c.168A>G	ENSP00000514620.1:p.Thr56=
ENST00000699820.1:c.635A>G	ENSP00000514621.1:p.Gln212Arg
ENST00000699821.1:c.230A>G	ENSP00000514622.1:p.Gln77Arg
ENST00000699822.1:c.*87A>G	ENSP00000514623.1:n.*87A>G
ENST00000699823.1:c.230A>G	ENSP00000514624.1:p.Gln77Arg
ENST00000699824.1:c.*138A>G	ENSP00000514625.1:n.*138A>G
ENST00000699825.1:c.230A>G	ENSP00000514626.1:p.Gln77Arg
ENST00000699826.1:c.*34A>G	ENSP00000514627.1:n.*34A>G
ENST00000699827.1:c.538-1755A>G	ENSP00000514628.1:n.538-1755A>G
ENST00000699828.1:c.635A>G	ENSP00000514629.1:p.Gln212Arg
ENST00000699829.1:c.*136A>G	ENSP00000514630.1:n.*136A>G
ENST00000699830.1:c.*34A>G	ENSP00000514631.1:n.*34A>G
ENST00000699831.1:n.547A>G
ENST00000699832.1:n.918A>G
ENST00000699833.1:n.715A>G
ENST00000699834.1:n.807+34A>G
ENST00000699837.1:c.230A>G	ENSP00000514635.1:p.Gln77Arg
ENST00000699838.1:c.*535A>G	ENSP00000514636.1:n.*535A>G
ENST00000699839.1:c.821A>G	ENSP00000514637.1:p.Gln274Arg
ENST00000699840.1:c.632A>G	ENSP00000514638.1:p.Gln211Arg
ENST00000699916.1:c.183A>G	ENSP00000514684.1:p.Thr61=
ENST00000699917.1:c.*84A>G	ENSP00000514685.1:n.*84A>G
ENST00000699918.1:c.*136A>G	ENSP00000514686.1:n.*136A>G
ENST00000699919.1:c.*222A>G	ENSP00000514687.1:n.*222A>G
ENST00000699920.1:c.*271A>G	ENSP00000514688.1:n.*271A>G
ENST00000699928.1:c.635A>G	ENSP00000514693.1:p.Gln212Arg
ENST00000699929.1:c.*34A>G	ENSP00000514694.1:n.*34A>G
ENST00000699930.1:c.597+38A>G	ENSP00000514695.1:n.597+38A>G
ENST00000699931.1:n.746A>G
ENST00000699932.1:c.635A>G	ENSP00000514696.1:p.Gln212Arg
ENST00000699933.1:n.715A>G
ENST00000699951.1:c.635A>G	ENSP00000514706.1:p.Gln212Arg
ENST00000699952.1:c.635A>G	ENSP00000514707.1:p.Gln212Arg
ENST00000699953.1:c.635A>G	ENSP00000514708.1:p.Gln212Arg
ENST00000699954.1:c.*34A>G	ENSP00000514709.1:n.*34A>G
ENST00000265849.12:c.635A>G MANE Select	ENSP00000265849.7:p.Gln212Arg
ENST00000642292.1:c.230A>G	ENSP00000495524.1:p.Gln77Arg
ENST00000642456.1:c.230A>G	ENSP00000493814.1:p.Gln77Arg
ENST00000643595.1:c.*34A>G	ENSP00000494497.1:n.*34A>G
ENST00000644110.1:c.317A>G	ENSP00000496392.1:p.Gln106Arg
ENST00000265849.11:c.635A>G	ENSP00000265849.7:p.Gln212Arg
ENST00000382321.5:c.635A>G	ENSP00000371758.4:p.Gln212Arg
ENST00000406569.7:n.635A>G
ENST00000441476.6:c.317A>G	ENSP00000392843.2:p.Gln106Arg
ENST00000469652.1:n.62+6815A>G
NM_000535.5:c.635A>G , LRG_161t1:c.635A>G	NP_000526.1:p.Gln212Arg
NR_003085.2:n.717A>G
XM_006715742.2:c.629A>G	XP_006715805.1:p.Gln210Arg
XM_011515427.1:c.680A>G	XP_011513729.1:p.Gln227Arg
XM_011515428.1:c.680A>G	XP_011513730.1:p.Gln227Arg
XM_011515429.1:c.317A>G	XP_011513731.1:p.Gln106Arg
XM_011515430.1:c.317A>G	XP_011513732.1:p.Gln106Arg
NM_000535.6:c.635A>G	NP_000526.2:p.Gln212Arg
NM_001322003.1:c.230A>G	NP_001308932.1:p.Gln77Arg
NM_001322004.1:c.230A>G	NP_001308933.1:p.Gln77Arg
NM_001322005.1:c.230A>G	NP_001308934.1:p.Gln77Arg
NM_001322006.1:c.635A>G	NP_001308935.1:p.Gln212Arg
NM_001322007.1:c.317A>G	NP_001308936.1:p.Gln106Arg
NM_001322008.1:c.317A>G	NP_001308937.1:p.Gln106Arg
NM_001322009.1:c.230A>G	NP_001308938.1:p.Gln77Arg
NM_001322010.1:c.230A>G	NP_001308939.1:p.Gln77Arg
NM_001322011.1:c.-299A>G	NP_001308940.1:n.-299A>G
NM_001322012.1:c.-299A>G	NP_001308941.1:n.-299A>G
NM_001322013.1:c.133-1755A>G	NP_001308942.1:n.133-1755A>G
NM_001322014.1:c.635A>G	NP_001308943.1:p.Gln212Arg
NM_001322015.1:c.326A>G	NP_001308944.1:p.Gln109Arg
NR_136154.1:n.722A>G
XM_017012342.2:c.-199A>G	XP_016867831.1:n.-199A>G
XM_024446800.1:c.230A>G	XP_024302568.1:p.Gln77Arg
NM_000535.7:c.635A>G MANE Select	NP_000526.2:p.Gln212Arg
NM_001322003.2:c.230A>G	NP_001308932.1:p.Gln77Arg
NM_001322004.2:c.230A>G	NP_001308933.1:p.Gln77Arg
NM_001322005.2:c.230A>G	NP_001308934.1:p.Gln77Arg
NM_001322006.2:c.635A>G	NP_001308935.1:p.Gln212Arg
NM_001322008.2:c.317A>G	NP_001308937.1:p.Gln106Arg
NM_001322009.2:c.230A>G	NP_001308938.1:p.Gln77Arg
NM_001322010.2:c.230A>G	NP_001308939.1:p.Gln77Arg
NM_001322011.2:c.-299A>G	NP_001308940.1:n.-299A>G
NM_001322012.2:c.-299A>G	NP_001308941.1:n.-299A>G
NM_001322013.2:c.133-1755A>G	NP_001308942.1:n.133-1755A>G
NM_001322014.2:c.635A>G	NP_001308943.1:p.Gln212Arg
NM_001322015.2:c.326A>G	NP_001308944.1:p.Gln109Arg
NM_001322007.2:c.317A>G	NP_001308936.1:p.Gln106Arg