Canonical Allele Identifier: CA012861

Gene: PMS2

Linked Data

• ClinVar Variation Id: 140831
• ClinVar RCV Id: RCV000129024 ; RCV000293218 ; RCV000254679 ; RCV001356694 ; RCV003477536 ; RCV002514707 ; RCV003905226 ; RCV003492582
• dbSNP Id: rs199660792
• ExAC: 7:6048657 A / G
• gnomAD v2: 7-6048657-A-G
• gnomAD v3: 7-6009026-A-G
• gnomAD v4: 7-6009026-A-G
• MyVariant Identifiers: chr7:g.6048657A>G (hg19) ; chr7:g.6009026A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6009026A>G , CM000669.2:g.6009026A>G	GRCh38
NC_000007.13:g.6048657A>G , CM000669.1:g.6048657A>G	GRCh37
NC_000007.12:g.6015183A>G	NCBI36
NG_008466.1:g.5081T>C , LRG_161:g.5081T>C
NG_050738.1:g.4776A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.-7T>C	ENSP00000514615.2:n.-7T>C
ENST00000699840.2:c.-7T>C	ENSP00000514638.2:n.-7T>C
ENST00000699930.2:c.-7T>C	ENSP00000514695.2:n.-7T>C
ENST00000415839.3:n.59T>C
ENST00000644110.2:c.-7T>C	ENSP00000496392.2:n.-7T>C
ENST00000699752.1:c.-7T>C	ENSP00000514561.1:n.-7T>C
ENST00000699753.1:c.-407T>C	ENSP00000514562.1:n.-407T>C
ENST00000699754.1:c.-7T>C	ENSP00000514563.1:n.-7T>C
ENST00000699755.1:c.-407T>C	ENSP00000514564.1:n.-407T>C
ENST00000699756.1:c.-7T>C	ENSP00000514565.1:n.-7T>C
ENST00000699757.1:c.-217T>C	ENSP00000514566.1:n.-217T>C
ENST00000699758.1:c.-7T>C	ENSP00000514567.1:n.-7T>C
ENST00000699759.1:n.66T>C
ENST00000699760.1:c.-82T>C	ENSP00000514568.1:n.-82T>C
ENST00000699761.1:c.-354T>C	ENSP00000514569.1:n.-354T>C
ENST00000699762.1:c.-407T>C	ENSP00000514570.1:n.-407T>C
ENST00000699763.1:c.-407T>C	ENSP00000514571.1:n.-407T>C
ENST00000699764.1:c.-7T>C	ENSP00000514572.1:n.-7T>C
ENST00000699765.1:c.-217T>C	ENSP00000514573.1:n.-217T>C
ENST00000699766.1:c.-7T>C	ENSP00000514574.1:n.-7T>C
ENST00000699767.1:c.-7T>C	ENSP00000514575.1:n.-7T>C
ENST00000699768.1:c.-7T>C	ENSP00000514576.1:n.-7T>C
ENST00000699769.1:n.74T>C
ENST00000699770.1:n.50T>C
ENST00000699811.1:c.-582T>C	ENSP00000514614.1:n.-582T>C
ENST00000699815.1:c.-407T>C	ENSP00000514616.1:n.-407T>C
ENST00000699816.1:c.-717T>C	ENSP00000514617.1:n.-717T>C
ENST00000699817.1:c.-7T>C	ENSP00000514618.1:n.-7T>C
ENST00000699818.1:c.-602T>C	ENSP00000514619.1:n.-602T>C
ENST00000699819.1:c.-615T>C	ENSP00000514620.1:n.-615T>C
ENST00000699820.1:c.-7T>C	ENSP00000514621.1:n.-7T>C
ENST00000699822.1:c.-407T>C	ENSP00000514623.1:n.-407T>C
ENST00000699823.1:c.-219T>C	ENSP00000514624.1:n.-219T>C
ENST00000699824.1:c.-7T>C	ENSP00000514625.1:n.-7T>C
ENST00000699825.1:c.-407T>C	ENSP00000514626.1:n.-407T>C
ENST00000699826.1:c.-272T>C	ENSP00000514627.1:n.-272T>C
ENST00000699827.1:c.-7T>C	ENSP00000514628.1:n.-7T>C
ENST00000699828.1:c.-7T>C	ENSP00000514629.1:n.-7T>C
ENST00000699829.1:c.-354T>C	ENSP00000514630.1:n.-354T>C
ENST00000699830.1:c.-7T>C	ENSP00000514631.1:n.-7T>C
ENST00000699833.1:n.74T>C
ENST00000699834.1:n.15T>C
ENST00000699837.1:c.-304T>C	ENSP00000514635.1:n.-304T>C
ENST00000699838.1:c.-7T>C	ENSP00000514636.1:n.-7T>C
ENST00000699839.1:c.-7T>C	ENSP00000514637.1:n.-7T>C
ENST00000699840.1:c.-7T>C	ENSP00000514638.1:n.-7T>C
ENST00000699916.1:c.-407T>C	ENSP00000514684.1:n.-407T>C
ENST00000699917.1:c.-7T>C	ENSP00000514685.1:n.-7T>C
ENST00000699918.1:c.-7T>C	ENSP00000514686.1:n.-7T>C
ENST00000699919.1:c.-7T>C	ENSP00000514687.1:n.-7T>C
ENST00000699920.1:c.-7T>C	ENSP00000514688.1:n.-7T>C
ENST00000699928.1:c.-7T>C	ENSP00000514693.1:n.-7T>C
ENST00000699929.1:c.-7T>C	ENSP00000514694.1:n.-7T>C
ENST00000699930.1:c.-7T>C	ENSP00000514695.1:n.-7T>C
ENST00000699931.1:n.105T>C
ENST00000699932.1:c.-7T>C	ENSP00000514696.1:n.-7T>C
ENST00000699933.1:n.74T>C
ENST00000699951.1:c.-7T>C	ENSP00000514706.1:n.-7T>C
ENST00000699952.1:c.-7T>C	ENSP00000514707.1:n.-7T>C
ENST00000699953.1:c.-7T>C	ENSP00000514708.1:n.-7T>C
ENST00000699954.1:c.-7T>C	ENSP00000514709.1:n.-7T>C
ENST00000703409.1:n.3T>C
ENST00000265849.12:c.-7T>C MANE Select	ENSP00000265849.7:n.-7T>C
ENST00000642292.1:c.-272T>C	ENSP00000495524.1:n.-272T>C
ENST00000642456.1:c.-407T>C	ENSP00000493814.1:n.-407T>C
ENST00000643595.1:c.-7T>C	ENSP00000494497.1:n.-7T>C
ENST00000265849.11:c.-7T>C	ENSP00000265849.7:n.-7T>C
ENST00000380416.5:n.73T>C
ENST00000441476.6:c.-222T>C	ENSP00000392843.2:n.-222T>C
NM_000535.5:c.-7T>C , LRG_161t1:c.-7T>C	NP_000526.1:n.-7T>C
NR_003085.2:n.81T>C
XM_011515429.1:c.-222T>C	XP_011513731.1:n.-222T>C
XM_011515430.1:c.-217T>C	XP_011513732.1:n.-217T>C
NM_000535.6:c.-7T>C	NP_000526.2:n.-7T>C
NM_001322003.1:c.-407T>C	NP_001308932.1:n.-407T>C
NM_001322004.1:c.-272T>C	NP_001308933.1:n.-272T>C
NM_001322005.1:c.-602T>C	NP_001308934.1:n.-602T>C
NM_001322006.1:c.-7T>C	NP_001308935.1:n.-7T>C
NM_001322007.1:c.-222T>C	NP_001308936.1:n.-222T>C
NM_001322008.1:c.-82T>C	NP_001308937.1:n.-82T>C
NM_001322009.1:c.-597T>C	NP_001308938.1:n.-597T>C
NM_001322010.1:c.-272T>C	NP_001308939.1:n.-272T>C
NM_001322011.1:c.-891T>C	NP_001308940.1:n.-891T>C
NM_001322012.1:c.-886T>C	NP_001308941.1:n.-886T>C
NM_001322013.1:c.-407T>C	NP_001308942.1:n.-407T>C
NM_001322014.1:c.-7T>C	NP_001308943.1:n.-7T>C
NM_001322015.1:c.-486T>C	NP_001308944.1:n.-486T>C
NR_136154.1:n.81T>C
XM_017012342.2:c.-786T>C	XP_016867831.1:n.-786T>C
XM_024446800.1:c.-407T>C	XP_024302568.1:n.-407T>C
NM_000535.7:c.-7T>C MANE Select	NP_000526.2:n.-7T>C
NM_001322003.2:c.-407T>C	NP_001308932.1:n.-407T>C
NM_001322004.2:c.-272T>C	NP_001308933.1:n.-272T>C
NM_001322005.2:c.-602T>C	NP_001308934.1:n.-602T>C
NM_001322006.2:c.-7T>C	NP_001308935.1:n.-7T>C
NM_001322008.2:c.-82T>C	NP_001308937.1:n.-82T>C
NM_001322009.2:c.-597T>C	NP_001308938.1:n.-597T>C
NM_001322010.2:c.-272T>C	NP_001308939.1:n.-272T>C
NM_001322011.2:c.-891T>C	NP_001308940.1:n.-891T>C
NM_001322012.2:c.-886T>C	NP_001308941.1:n.-886T>C
NM_001322013.2:c.-407T>C	NP_001308942.1:n.-407T>C
NM_001322014.2:c.-7T>C	NP_001308943.1:n.-7T>C
NM_001322015.2:c.-486T>C	NP_001308944.1:n.-486T>C
NM_001322007.2:c.-222T>C	NP_001308936.1:n.-222T>C