Canonical Allele Identifier: CA048839

Gene: PMS2

Linked Data

• ClinVar Variation Id: 455704
• ClinVar RCV Id: RCV000571991 ; RCV000553752 ; RCV001576970 ; RCV003459183
• dbSNP Id: rs754350493
• ExAC: 7:6013065 G / A
• gnomAD v2: 7-6013065-G-A
• gnomAD v4: 7-5973434-G-A
• MyVariant Identifiers: chr7:g.6013065G>A (hg19) ; chr7:g.5973434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973434G>A , CM000669.2:g.5973434G>A	GRCh38
NC_000007.13:g.6013065G>A , CM000669.1:g.6013065G>A	GRCh37
NC_000007.12:g.5979591G>A	NCBI36
NG_008466.1:g.40673C>T , LRG_161:g.40673C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1950C>T	ENSP00000514615.2:n.*1950C>T
ENST00000699840.2:c.2551C>T	ENSP00000514638.2:p.His851Tyr
ENST00000699930.2:c.2446C>T	ENSP00000514695.2:p.His816Tyr
ENST00000406569.8:c.1914C>T	ENSP00000514464.1:n.1914C>T
ENST00000644110.2:c.*2148C>T	ENSP00000496392.2:n.*2148C>T
ENST00000699752.1:c.2398C>T	ENSP00000514561.1:p.His800Tyr
ENST00000699753.1:c.*1975C>T	ENSP00000514562.1:n.*1975C>T
ENST00000699754.1:c.2356C>T	ENSP00000514563.1:p.His786Tyr
ENST00000699755.1:c.*1953C>T	ENSP00000514564.1:n.*1953C>T
ENST00000699756.1:c.*2141C>T	ENSP00000514565.1:n.*2141C>T
ENST00000699757.1:c.*1811C>T	ENSP00000514566.1:n.*1811C>T
ENST00000699758.1:c.*1811C>T	ENSP00000514567.1:n.*1811C>T
ENST00000699759.1:n.3408C>T
ENST00000699760.1:c.2236C>T	ENSP00000514568.1:p.His746Tyr
ENST00000699761.1:c.2149C>T	ENSP00000514569.1:p.His717Tyr
ENST00000699762.1:c.1981C>T	ENSP00000514570.1:p.His661Tyr
ENST00000699763.1:c.*1644C>T	ENSP00000514571.1:n.*1644C>T
ENST00000699764.1:c.*872C>T	ENSP00000514572.1:n.*872C>T
ENST00000699765.1:c.*1549C>T	ENSP00000514573.1:n.*1549C>T
ENST00000699766.1:c.2587C>T	ENSP00000514574.1:p.His863Tyr
ENST00000699767.1:c.*195C>T	ENSP00000514575.1:n.*195C>T
ENST00000699768.1:c.2410C>T	ENSP00000514576.1:p.His804Tyr
ENST00000699811.1:c.2149C>T	ENSP00000514614.1:p.His717Tyr
ENST00000699813.1:n.2667C>T
ENST00000699814.1:c.2177C>T
ENST00000699815.1:c.*2085C>T	ENSP00000514616.1:n.*2085C>T
ENST00000699816.1:c.*1444C>T	ENSP00000514617.1:n.*1444C>T
ENST00000699817.1:c.*2148C>T	ENSP00000514618.1:n.*2148C>T
ENST00000699818.1:c.2149C>T	ENSP00000514619.1:p.His717Tyr
ENST00000699819.1:c.*1711C>T	ENSP00000514620.1:n.*1711C>T
ENST00000699820.1:c.*492C>T	ENSP00000514621.1:n.*492C>T
ENST00000699821.1:c.2182C>T	ENSP00000514622.1:p.His728Tyr
ENST00000699822.1:c.*2006C>T	ENSP00000514623.1:n.*2006C>T
ENST00000699823.1:c.2149C>T	ENSP00000514624.1:p.His717Tyr
ENST00000699824.1:c.*2057C>T	ENSP00000514625.1:n.*2057C>T
ENST00000699825.1:c.1993C>T	ENSP00000514626.1:p.His665Tyr
ENST00000699826.1:c.*1953C>T	ENSP00000514627.1:n.*1953C>T
ENST00000699827.1:c.2386C>T	ENSP00000514628.1:p.His796Tyr
ENST00000699828.1:c.*1644C>T	ENSP00000514629.1:n.*1644C>T
ENST00000699833.1:n.4326C>T
ENST00000699837.1:c.2149C>T	ENSP00000514635.1:p.His717Tyr
ENST00000699838.1:c.*2454C>T	ENSP00000514636.1:n.*2454C>T
ENST00000699839.1:c.2740C>T	ENSP00000514637.1:p.His914Tyr
ENST00000699916.1:c.*1811C>T	ENSP00000514684.1:n.*1811C>T
ENST00000699917.1:c.*2003C>T	ENSP00000514685.1:n.*2003C>T
ENST00000699918.1:c.*2055C>T	ENSP00000514686.1:n.*2055C>T
ENST00000699919.1:c.*2141C>T	ENSP00000514687.1:n.*2141C>T
ENST00000699920.1:c.*2190C>T	ENSP00000514688.1:n.*2190C>T
ENST00000699928.1:c.*492C>T	ENSP00000514693.1:n.*492C>T
ENST00000699951.1:c.*1607C>T	ENSP00000514706.1:n.*1607C>T
ENST00000699952.1:c.*108C>T	ENSP00000514707.1:n.*108C>T
ENST00000265849.12:c.2554C>T MANE Select	ENSP00000265849.7:p.His852Tyr
ENST00000642292.1:c.2149C>T	ENSP00000495524.1:p.His717Tyr
ENST00000642456.1:c.2149C>T	ENSP00000493814.1:p.His717Tyr
ENST00000643595.1:c.*1953C>T	ENSP00000494497.1:n.*1953C>T
ENST00000644110.1:c.2236C>T	ENSP00000496392.1:p.His746Tyr
ENST00000265849.11:c.2554C>T	ENSP00000265849.7:p.His852Tyr
ENST00000382321.5:c.1351C>T	ENSP00000371758.4:p.His451Tyr
ENST00000441476.6:c.2236C>T	ENSP00000392843.2:p.His746Tyr
NM_000535.5:c.2554C>T , LRG_161t1:c.2554C>T	NP_000526.1:p.His852Tyr
NR_003085.2:n.2636C>T
XM_006715742.2:c.2548C>T	XP_006715805.1:p.His850Tyr
XM_006715744.2:c.1621C>T	XP_006715807.1:p.His541Tyr
XM_011515427.1:c.2599C>T	XP_011513729.1:p.His867Tyr
XM_011515428.1:c.2443C>T	XP_011513730.1:p.His815Tyr
XM_011515429.1:c.2236C>T	XP_011513731.1:p.His746Tyr
XM_011515430.1:c.2236C>T	XP_011513732.1:p.His746Tyr
NM_000535.6:c.2554C>T	NP_000526.2:p.His852Tyr
NM_001322003.1:c.2149C>T	NP_001308932.1:p.His717Tyr
NM_001322004.1:c.2149C>T	NP_001308933.1:p.His717Tyr
NM_001322005.1:c.2149C>T	NP_001308934.1:p.His717Tyr
NM_001322006.1:c.2398C>T	NP_001308935.1:p.His800Tyr
NM_001322007.1:c.2236C>T	NP_001308936.1:p.His746Tyr
NM_001322008.1:c.2236C>T	NP_001308937.1:p.His746Tyr
NM_001322009.1:c.2182C>T	NP_001308938.1:p.His728Tyr
NM_001322010.1:c.1993C>T	NP_001308939.1:p.His665Tyr
NM_001322011.1:c.1621C>T	NP_001308940.1:p.His541Tyr
NM_001322012.1:c.1621C>T	NP_001308941.1:p.His541Tyr
NM_001322013.1:c.1981C>T	NP_001308942.1:p.His661Tyr
NM_001322014.1:c.2587C>T	NP_001308943.1:p.His863Tyr
NM_001322015.1:c.2245C>T	NP_001308944.1:p.His749Tyr
NR_136154.1:n.2598C>T
XM_006715744.4:c.1621C>T	XP_006715807.1:p.His541Tyr
XM_017012342.2:c.1621C>T	XP_016867831.1:p.His541Tyr
XM_024446800.1:c.1993C>T	XP_024302568.1:p.His665Tyr
NM_000535.7:c.2554C>T MANE Select	NP_000526.2:p.His852Tyr
NM_001322003.2:c.2149C>T	NP_001308932.1:p.His717Tyr
NM_001322004.2:c.2149C>T	NP_001308933.1:p.His717Tyr
NM_001322005.2:c.2149C>T	NP_001308934.1:p.His717Tyr
NM_001322006.2:c.2398C>T	NP_001308935.1:p.His800Tyr
NM_001322008.2:c.2236C>T	NP_001308937.1:p.His746Tyr
NM_001322009.2:c.2182C>T	NP_001308938.1:p.His728Tyr
NM_001322010.2:c.1993C>T	NP_001308939.1:p.His665Tyr
NM_001322011.2:c.1621C>T	NP_001308940.1:p.His541Tyr
NM_001322012.2:c.1621C>T	NP_001308941.1:p.His541Tyr
NM_001322013.2:c.1981C>T	NP_001308942.1:p.His661Tyr
NM_001322014.2:c.2587C>T	NP_001308943.1:p.His863Tyr
NM_001322015.2:c.2245C>T	NP_001308944.1:p.His749Tyr
NM_001322007.2:c.2236C>T	NP_001308936.1:p.His746Tyr