Canonical Allele Identifier: CA366738120

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2624749
• ClinVar RCV Id: RCV003386981 ; RCV003459852
• dbSNP Id: rs876658953
• gnomAD v4: 7-5982955-C-G
• MyVariant Identifiers: chr7:g.6022586C>G (hg19) ; chr7:g.5982955C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982955C>G , CM000669.2:g.5982955C>G	GRCh38
NC_000007.13:g.6022586C>G , CM000669.1:g.6022586C>G	GRCh37
NC_000007.12:g.5989112C>G	NCBI36
NG_008466.1:g.31152G>C , LRG_161:g.31152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1439G>C	ENSP00000514615.2:n.*1439G>C
ENST00000699840.2:c.2040G>C	ENSP00000514638.2:p.Gln680His
ENST00000699930.2:c.1935G>C	ENSP00000514695.2:p.Gln645His
ENST00000406569.8:c.1678+4132G>C	ENSP00000514464.1:n.1678+4132G>C
ENST00000644110.2:c.*1637G>C	ENSP00000496392.2:n.*1637G>C
ENST00000699752.1:c.1887G>C	ENSP00000514561.1:p.Gln629His
ENST00000699753.1:c.*1464G>C	ENSP00000514562.1:n.*1464G>C
ENST00000699754.1:c.1845G>C	ENSP00000514563.1:p.Gln615His
ENST00000699755.1:c.*1442G>C	ENSP00000514564.1:n.*1442G>C
ENST00000699756.1:c.*1630G>C	ENSP00000514565.1:n.*1630G>C
ENST00000699757.1:c.*1300G>C	ENSP00000514566.1:n.*1300G>C
ENST00000699758.1:c.*1300G>C	ENSP00000514567.1:n.*1300G>C
ENST00000699759.1:n.2897G>C
ENST00000699760.1:c.1725G>C	ENSP00000514568.1:p.Gln575His
ENST00000699761.1:c.1638G>C	ENSP00000514569.1:p.Gln546His
ENST00000699762.1:c.1470G>C	ENSP00000514570.1:p.Gln490His
ENST00000699763.1:c.*1133G>C	ENSP00000514571.1:n.*1133G>C
ENST00000699764.1:c.*361G>C	ENSP00000514572.1:n.*361G>C
ENST00000699765.1:c.*1139G>C	ENSP00000514573.1:n.*1139G>C
ENST00000699766.1:c.2043G>C	ENSP00000514574.1:p.Gln681His
ENST00000699767.1:c.2043G>C	ENSP00000514575.1:p.Gln681His
ENST00000699768.1:c.2043G>C	ENSP00000514576.1:p.Gln681His
ENST00000699811.1:c.1638G>C	ENSP00000514614.1:p.Gln546His
ENST00000699813.1:n.2156G>C
ENST00000699814.1:c.1666G>C
ENST00000699815.1:c.*1574G>C	ENSP00000514616.1:n.*1574G>C
ENST00000699816.1:c.*933G>C	ENSP00000514617.1:n.*933G>C
ENST00000699817.1:c.*1637G>C	ENSP00000514618.1:n.*1637G>C
ENST00000699818.1:c.1638G>C	ENSP00000514619.1:p.Gln546His
ENST00000699819.1:c.*1200G>C	ENSP00000514620.1:n.*1200G>C
ENST00000699820.1:c.1181G>C	ENSP00000514621.1:p.Ser394Thr
ENST00000699821.1:c.1638G>C	ENSP00000514622.1:p.Gln546His
ENST00000699822.1:c.*1495G>C	ENSP00000514623.1:n.*1495G>C
ENST00000699823.1:c.1638G>C	ENSP00000514624.1:p.Gln546His
ENST00000699824.1:c.*1546G>C	ENSP00000514625.1:n.*1546G>C
ENST00000699825.1:c.1482G>C	ENSP00000514626.1:p.Gln494His
ENST00000699826.1:c.*1442G>C	ENSP00000514627.1:n.*1442G>C
ENST00000699827.1:c.1875G>C	ENSP00000514628.1:p.Gln625His
ENST00000699828.1:c.*1133G>C	ENSP00000514629.1:n.*1133G>C
ENST00000699833.1:n.3815G>C
ENST00000699837.1:c.1638G>C	ENSP00000514635.1:p.Gln546His
ENST00000699838.1:c.*1943G>C	ENSP00000514636.1:n.*1943G>C
ENST00000699839.1:c.2229G>C	ENSP00000514637.1:p.Gln743His
ENST00000699916.1:c.*1300G>C	ENSP00000514684.1:n.*1300G>C
ENST00000699917.1:c.*1492G>C	ENSP00000514685.1:n.*1492G>C
ENST00000699918.1:c.*1544G>C	ENSP00000514686.1:n.*1544G>C
ENST00000699919.1:c.*1630G>C	ENSP00000514687.1:n.*1630G>C
ENST00000699920.1:c.*1679G>C	ENSP00000514688.1:n.*1679G>C
ENST00000699928.1:c.1025G>C	ENSP00000514693.1:p.Ser342Thr
ENST00000699951.1:c.*1139G>C	ENSP00000514706.1:n.*1139G>C
ENST00000699952.1:c.804-9413G>C	ENSP00000514707.1:n.804-9413G>C
ENST00000265849.12:c.2043G>C MANE Select	ENSP00000265849.7:p.Gln681His
ENST00000642292.1:c.1638G>C	ENSP00000495524.1:p.Gln546His
ENST00000642456.1:c.1638G>C	ENSP00000493814.1:p.Gln546His
ENST00000643595.1:c.*1442G>C	ENSP00000494497.1:n.*1442G>C
ENST00000644110.1:c.1725G>C	ENSP00000496392.1:p.Gln575His
ENST00000265849.11:c.2043G>C	ENSP00000265849.7:p.Gln681His
ENST00000382321.5:c.840G>C	ENSP00000371758.4:p.Gln280His
ENST00000406569.7:n.1678+4132G>C
ENST00000441476.6:c.1725G>C	ENSP00000392843.2:p.Gln575His
ENST00000469652.1:n.63-50G>C
NM_000535.5:c.2043G>C , LRG_161t1:c.2043G>C	NP_000526.1:p.Gln681His
NR_003085.2:n.2125G>C
XM_006715742.2:c.2037G>C	XP_006715805.1:p.Gln679His
XM_006715744.2:c.1110G>C	XP_006715807.1:p.Gln370His
XM_011515427.1:c.2088G>C	XP_011513729.1:p.Gln696His
XM_011515428.1:c.1932G>C	XP_011513730.1:p.Gln644His
XM_011515429.1:c.1725G>C	XP_011513731.1:p.Gln575His
XM_011515430.1:c.1725G>C	XP_011513732.1:p.Gln575His
NM_000535.6:c.2043G>C	NP_000526.2:p.Gln681His
NM_001322003.1:c.1638G>C	NP_001308932.1:p.Gln546His
NM_001322004.1:c.1638G>C	NP_001308933.1:p.Gln546His
NM_001322005.1:c.1638G>C	NP_001308934.1:p.Gln546His
NM_001322006.1:c.1887G>C	NP_001308935.1:p.Gln629His
NM_001322007.1:c.1725G>C	NP_001308936.1:p.Gln575His
NM_001322008.1:c.1725G>C	NP_001308937.1:p.Gln575His
NM_001322009.1:c.1638G>C	NP_001308938.1:p.Gln546His
NM_001322010.1:c.1482G>C	NP_001308939.1:p.Gln494His
NM_001322011.1:c.1110G>C	NP_001308940.1:p.Gln370His
NM_001322012.1:c.1110G>C	NP_001308941.1:p.Gln370His
NM_001322013.1:c.1470G>C	NP_001308942.1:p.Gln490His
NM_001322014.1:c.2043G>C	NP_001308943.1:p.Gln681His
NM_001322015.1:c.1734G>C	NP_001308944.1:p.Gln578His
NR_136154.1:n.2130G>C
XM_006715744.4:c.1110G>C	XP_006715807.1:p.Gln370His
XM_017012342.2:c.1110G>C	XP_016867831.1:p.Gln370His
XM_024446800.1:c.1482G>C	XP_024302568.1:p.Gln494His
NM_000535.7:c.2043G>C MANE Select	NP_000526.2:p.Gln681His
NM_001322003.2:c.1638G>C	NP_001308932.1:p.Gln546His
NM_001322004.2:c.1638G>C	NP_001308933.1:p.Gln546His
NM_001322005.2:c.1638G>C	NP_001308934.1:p.Gln546His
NM_001322006.2:c.1887G>C	NP_001308935.1:p.Gln629His
NM_001322008.2:c.1725G>C	NP_001308937.1:p.Gln575His
NM_001322009.2:c.1638G>C	NP_001308938.1:p.Gln546His
NM_001322010.2:c.1482G>C	NP_001308939.1:p.Gln494His
NM_001322011.2:c.1110G>C	NP_001308940.1:p.Gln370His
NM_001322012.2:c.1110G>C	NP_001308941.1:p.Gln370His
NM_001322013.2:c.1470G>C	NP_001308942.1:p.Gln490His
NM_001322014.2:c.2043G>C	NP_001308943.1:p.Gln681His
NM_001322015.2:c.1734G>C	NP_001308944.1:p.Gln578His
NM_001322007.2:c.1725G>C	NP_001308936.1:p.Gln575His