Canonical Allele Identifier: CA366738079

Gene: PMS2

Linked Data

• ClinVar Variation Id: 480350
• ClinVar RCV Id: RCV000569372 ; RCV000630098
• dbSNP Id: rs1060503144
• gnomAD v4: 7-5982936-T-A
• MyVariant Identifiers: chr7:g.6022567T>A (hg19) ; chr7:g.5982936T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982936T>A , CM000669.2:g.5982936T>A	GRCh38
NC_000007.13:g.6022567T>A , CM000669.1:g.6022567T>A	GRCh37
NC_000007.12:g.5989093T>A	NCBI36
NG_008466.1:g.31171A>T , LRG_161:g.31171A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1458A>T	ENSP00000514615.2:n.*1458A>T
ENST00000699840.2:c.2059A>T	ENSP00000514638.2:p.Ile687Leu
ENST00000699930.2:c.1954A>T	ENSP00000514695.2:p.Ile652Leu
ENST00000406569.8:c.1678+4151A>T	ENSP00000514464.1:n.1678+4151A>T
ENST00000644110.2:c.*1656A>T	ENSP00000496392.2:n.*1656A>T
ENST00000699752.1:c.1906A>T	ENSP00000514561.1:p.Ile636Leu
ENST00000699753.1:c.*1483A>T	ENSP00000514562.1:n.*1483A>T
ENST00000699754.1:c.1864A>T	ENSP00000514563.1:p.Ile622Leu
ENST00000699755.1:c.*1461A>T	ENSP00000514564.1:n.*1461A>T
ENST00000699756.1:c.*1649A>T	ENSP00000514565.1:n.*1649A>T
ENST00000699757.1:c.*1319A>T	ENSP00000514566.1:n.*1319A>T
ENST00000699758.1:c.*1319A>T	ENSP00000514567.1:n.*1319A>T
ENST00000699759.1:n.2916A>T
ENST00000699760.1:c.1744A>T	ENSP00000514568.1:p.Ile582Leu
ENST00000699761.1:c.1657A>T	ENSP00000514569.1:p.Ile553Leu
ENST00000699762.1:c.1489A>T	ENSP00000514570.1:p.Ile497Leu
ENST00000699763.1:c.*1152A>T	ENSP00000514571.1:n.*1152A>T
ENST00000699764.1:c.*380A>T	ENSP00000514572.1:n.*380A>T
ENST00000699765.1:c.*1158A>T	ENSP00000514573.1:n.*1158A>T
ENST00000699766.1:c.2062A>T	ENSP00000514574.1:p.Ile688Leu
ENST00000699767.1:c.2062A>T	ENSP00000514575.1:p.Ile688Leu
ENST00000699768.1:c.2062A>T	ENSP00000514576.1:p.Ile688Leu
ENST00000699811.1:c.1657A>T	ENSP00000514614.1:p.Ile553Leu
ENST00000699813.1:n.2175A>T
ENST00000699814.1:c.1685A>T
ENST00000699815.1:c.*1593A>T	ENSP00000514616.1:n.*1593A>T
ENST00000699816.1:c.*952A>T	ENSP00000514617.1:n.*952A>T
ENST00000699817.1:c.*1656A>T	ENSP00000514618.1:n.*1656A>T
ENST00000699818.1:c.1657A>T	ENSP00000514619.1:p.Ile553Leu
ENST00000699819.1:c.*1219A>T	ENSP00000514620.1:n.*1219A>T
ENST00000699820.1:c.1200A>T	ENSP00000514621.1:p.Ter400Tyr
ENST00000699821.1:c.1657A>T	ENSP00000514622.1:p.Ile553Leu
ENST00000699822.1:c.*1514A>T	ENSP00000514623.1:n.*1514A>T
ENST00000699823.1:c.1657A>T	ENSP00000514624.1:p.Ile553Leu
ENST00000699824.1:c.*1565A>T	ENSP00000514625.1:n.*1565A>T
ENST00000699825.1:c.1501A>T	ENSP00000514626.1:p.Ile501Leu
ENST00000699826.1:c.*1461A>T	ENSP00000514627.1:n.*1461A>T
ENST00000699827.1:c.1894A>T	ENSP00000514628.1:p.Ile632Leu
ENST00000699828.1:c.*1152A>T	ENSP00000514629.1:n.*1152A>T
ENST00000699833.1:n.3834A>T
ENST00000699837.1:c.1657A>T	ENSP00000514635.1:p.Ile553Leu
ENST00000699838.1:c.*1962A>T	ENSP00000514636.1:n.*1962A>T
ENST00000699839.1:c.2248A>T	ENSP00000514637.1:p.Ile750Leu
ENST00000699916.1:c.*1319A>T	ENSP00000514684.1:n.*1319A>T
ENST00000699917.1:c.*1511A>T	ENSP00000514685.1:n.*1511A>T
ENST00000699918.1:c.*1563A>T	ENSP00000514686.1:n.*1563A>T
ENST00000699919.1:c.*1649A>T	ENSP00000514687.1:n.*1649A>T
ENST00000699920.1:c.*1698A>T	ENSP00000514688.1:n.*1698A>T
ENST00000699928.1:c.1044A>T	ENSP00000514693.1:p.Ter348Tyr
ENST00000699951.1:c.*1158A>T	ENSP00000514706.1:n.*1158A>T
ENST00000699952.1:c.804-9394A>T	ENSP00000514707.1:n.804-9394A>T
ENST00000265849.12:c.2062A>T MANE Select	ENSP00000265849.7:p.Ile688Leu
ENST00000642292.1:c.1657A>T	ENSP00000495524.1:p.Ile553Leu
ENST00000642456.1:c.1657A>T	ENSP00000493814.1:p.Ile553Leu
ENST00000643595.1:c.*1461A>T	ENSP00000494497.1:n.*1461A>T
ENST00000644110.1:c.1744A>T	ENSP00000496392.1:p.Ile582Leu
ENST00000265849.11:c.2062A>T	ENSP00000265849.7:p.Ile688Leu
ENST00000382321.5:c.859A>T	ENSP00000371758.4:p.Ile287Leu
ENST00000406569.7:n.1678+4151A>T
ENST00000441476.6:c.1744A>T	ENSP00000392843.2:p.Ile582Leu
ENST00000469652.1:n.63-31A>T
NM_000535.5:c.2062A>T , LRG_161t1:c.2062A>T	NP_000526.1:p.Ile688Leu
NR_003085.2:n.2144A>T
XM_006715742.2:c.2056A>T	XP_006715805.1:p.Ile686Leu
XM_006715744.2:c.1129A>T	XP_006715807.1:p.Ile377Leu
XM_011515427.1:c.2107A>T	XP_011513729.1:p.Ile703Leu
XM_011515428.1:c.1951A>T	XP_011513730.1:p.Ile651Leu
XM_011515429.1:c.1744A>T	XP_011513731.1:p.Ile582Leu
XM_011515430.1:c.1744A>T	XP_011513732.1:p.Ile582Leu
NM_000535.6:c.2062A>T	NP_000526.2:p.Ile688Leu
NM_001322003.1:c.1657A>T	NP_001308932.1:p.Ile553Leu
NM_001322004.1:c.1657A>T	NP_001308933.1:p.Ile553Leu
NM_001322005.1:c.1657A>T	NP_001308934.1:p.Ile553Leu
NM_001322006.1:c.1906A>T	NP_001308935.1:p.Ile636Leu
NM_001322007.1:c.1744A>T	NP_001308936.1:p.Ile582Leu
NM_001322008.1:c.1744A>T	NP_001308937.1:p.Ile582Leu
NM_001322009.1:c.1657A>T	NP_001308938.1:p.Ile553Leu
NM_001322010.1:c.1501A>T	NP_001308939.1:p.Ile501Leu
NM_001322011.1:c.1129A>T	NP_001308940.1:p.Ile377Leu
NM_001322012.1:c.1129A>T	NP_001308941.1:p.Ile377Leu
NM_001322013.1:c.1489A>T	NP_001308942.1:p.Ile497Leu
NM_001322014.1:c.2062A>T	NP_001308943.1:p.Ile688Leu
NM_001322015.1:c.1753A>T	NP_001308944.1:p.Ile585Leu
NR_136154.1:n.2149A>T
XM_006715744.4:c.1129A>T	XP_006715807.1:p.Ile377Leu
XM_017012342.2:c.1129A>T	XP_016867831.1:p.Ile377Leu
XM_024446800.1:c.1501A>T	XP_024302568.1:p.Ile501Leu
NM_000535.7:c.2062A>T MANE Select	NP_000526.2:p.Ile688Leu
NM_001322003.2:c.1657A>T	NP_001308932.1:p.Ile553Leu
NM_001322004.2:c.1657A>T	NP_001308933.1:p.Ile553Leu
NM_001322005.2:c.1657A>T	NP_001308934.1:p.Ile553Leu
NM_001322006.2:c.1906A>T	NP_001308935.1:p.Ile636Leu
NM_001322008.2:c.1744A>T	NP_001308937.1:p.Ile582Leu
NM_001322009.2:c.1657A>T	NP_001308938.1:p.Ile553Leu
NM_001322010.2:c.1501A>T	NP_001308939.1:p.Ile501Leu
NM_001322011.2:c.1129A>T	NP_001308940.1:p.Ile377Leu
NM_001322012.2:c.1129A>T	NP_001308941.1:p.Ile377Leu
NM_001322013.2:c.1489A>T	NP_001308942.1:p.Ile497Leu
NM_001322014.2:c.2062A>T	NP_001308943.1:p.Ile688Leu
NM_001322015.2:c.1753A>T	NP_001308944.1:p.Ile585Leu
NM_001322007.2:c.1744A>T	NP_001308936.1:p.Ile582Leu