Canonical Allele Identifier: CA572543077

Gene: PMS2

Linked Data

• dbSNP Id: rs1166378370
• gnomAD v2: 7-6012873-G-A
• gnomAD v3: 7-5973242-G-A
• gnomAD v4: 7-5973242-G-A
• MyVariant Identifiers: chr7:g.6012873G>A (hg19) ; chr7:g.5973242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973242G>A , CM000669.2:g.5973242G>A	GRCh38
NC_000007.13:g.6012873G>A , CM000669.1:g.6012873G>A	GRCh37
NC_000007.12:g.5979399G>A	NCBI36
NG_008466.1:g.40865C>T , LRG_161:g.40865C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*2142C>T	ENSP00000514615.2:n.*2142C>T
ENST00000699840.2:c.*157C>T	ENSP00000514638.2:n.*157C>T
ENST00000699930.2:c.*157C>T	ENSP00000514695.2:n.*157C>T
ENST00000699752.1:c.*157C>T	ENSP00000514561.1:n.*157C>T
ENST00000699753.1:c.*2167C>T	ENSP00000514562.1:n.*2167C>T
ENST00000699754.1:c.*157C>T	ENSP00000514563.1:n.*157C>T
ENST00000699755.1:c.*2145C>T	ENSP00000514564.1:n.*2145C>T
ENST00000699756.1:c.*2333C>T	ENSP00000514565.1:n.*2333C>T
ENST00000699757.1:c.*2003C>T	ENSP00000514566.1:n.*2003C>T
ENST00000699758.1:c.*2003C>T	ENSP00000514567.1:n.*2003C>T
ENST00000699759.1:n.3600C>T
ENST00000699760.1:c.*157C>T	ENSP00000514568.1:n.*157C>T
ENST00000699761.1:c.*157C>T	ENSP00000514569.1:n.*157C>T
ENST00000699762.1:c.*157C>T	ENSP00000514570.1:n.*157C>T
ENST00000699763.1:c.*1836C>T	ENSP00000514571.1:n.*1836C>T
ENST00000699764.1:c.*1064C>T	ENSP00000514572.1:n.*1064C>T
ENST00000699765.1:c.*1741C>T	ENSP00000514573.1:n.*1741C>T
ENST00000699766.1:c.*157C>T	ENSP00000514574.1:n.*157C>T
ENST00000699767.1:c.*387C>T	ENSP00000514575.1:n.*387C>T
ENST00000699768.1:c.*157C>T	ENSP00000514576.1:n.*157C>T
ENST00000699811.1:c.*157C>T	ENSP00000514614.1:n.*157C>T
ENST00000699813.1:n.2859C>T
ENST00000699814.1:c.2369C>T
ENST00000699815.1:c.*2277C>T	ENSP00000514616.1:n.*2277C>T
ENST00000699816.1:c.*1636C>T	ENSP00000514617.1:n.*1636C>T
ENST00000699817.1:c.*2340C>T	ENSP00000514618.1:n.*2340C>T
ENST00000699818.1:c.*157C>T	ENSP00000514619.1:n.*157C>T
ENST00000699819.1:c.*1903C>T	ENSP00000514620.1:n.*1903C>T
ENST00000699820.1:c.*684C>T	ENSP00000514621.1:n.*684C>T
ENST00000699821.1:c.*157C>T	ENSP00000514622.1:n.*157C>T
ENST00000699822.1:c.*2198C>T	ENSP00000514623.1:n.*2198C>T
ENST00000699823.1:c.*157C>T	ENSP00000514624.1:n.*157C>T
ENST00000699824.1:c.*2249C>T	ENSP00000514625.1:n.*2249C>T
ENST00000699825.1:c.*157C>T	ENSP00000514626.1:n.*157C>T
ENST00000699826.1:c.*2145C>T	ENSP00000514627.1:n.*2145C>T
ENST00000699827.1:c.*157C>T	ENSP00000514628.1:n.*157C>T
ENST00000699828.1:c.*1836C>T	ENSP00000514629.1:n.*1836C>T
ENST00000699833.1:n.4518C>T
ENST00000699837.1:c.*157C>T	ENSP00000514635.1:n.*157C>T
ENST00000699838.1:c.*2646C>T	ENSP00000514636.1:n.*2646C>T
ENST00000699839.1:c.*157C>T	ENSP00000514637.1:n.*157C>T
ENST00000699916.1:c.*2003C>T	ENSP00000514684.1:n.*2003C>T
ENST00000699917.1:c.*2195C>T	ENSP00000514685.1:n.*2195C>T
ENST00000699918.1:c.*2247C>T	ENSP00000514686.1:n.*2247C>T
ENST00000699919.1:c.*2333C>T	ENSP00000514687.1:n.*2333C>T
ENST00000699920.1:c.*2382C>T	ENSP00000514688.1:n.*2382C>T
ENST00000699928.1:c.*684C>T	ENSP00000514693.1:n.*684C>T
ENST00000699951.1:c.*1799C>T	ENSP00000514706.1:n.*1799C>T
ENST00000699952.1:c.*300C>T	ENSP00000514707.1:n.*300C>T
ENST00000265849.12:c.*157C>T MANE Select	ENSP00000265849.7:n.*157C>T
ENST00000265849.11:c.*157C>T	ENSP00000265849.7:n.*157C>T
ENST00000441476.6:c.*157C>T	ENSP00000392843.2:n.*157C>T
NM_000535.5:c.*157C>T , LRG_161t1:c.*157C>T	NP_000526.1:n.*157C>T
NR_003085.2:n.2828C>T
XM_006715742.2:c.*157C>T	XP_006715805.1:n.*157C>T
XM_006715744.2:c.*157C>T	XP_006715807.1:n.*157C>T
XM_011515427.1:c.*157C>T	XP_011513729.1:n.*157C>T
XM_011515428.1:c.*157C>T	XP_011513730.1:n.*157C>T
XM_011515429.1:c.*157C>T	XP_011513731.1:n.*157C>T
XM_011515430.1:c.*157C>T	XP_011513732.1:n.*157C>T
NM_000535.6:c.*157C>T	NP_000526.2:n.*157C>T
NM_001322003.1:c.*157C>T	NP_001308932.1:n.*157C>T
NM_001322004.1:c.*157C>T	NP_001308933.1:n.*157C>T
NM_001322005.1:c.*157C>T	NP_001308934.1:n.*157C>T
NM_001322006.1:c.*157C>T	NP_001308935.1:n.*157C>T
NM_001322007.1:c.*157C>T	NP_001308936.1:n.*157C>T
NM_001322008.1:c.*157C>T	NP_001308937.1:n.*157C>T
NM_001322009.1:c.*157C>T	NP_001308938.1:n.*157C>T
NM_001322010.1:c.*157C>T	NP_001308939.1:n.*157C>T
NM_001322011.1:c.*157C>T	NP_001308940.1:n.*157C>T
NM_001322012.1:c.*157C>T	NP_001308941.1:n.*157C>T
NM_001322013.1:c.*157C>T	NP_001308942.1:n.*157C>T
NM_001322014.1:c.*157C>T	NP_001308943.1:n.*157C>T
NM_001322015.1:c.*157C>T	NP_001308944.1:n.*157C>T
NR_136154.1:n.2790C>T
XM_006715744.4:c.*157C>T	XP_006715807.1:n.*157C>T
XM_017012342.2:c.*157C>T	XP_016867831.1:n.*157C>T
XM_024446800.1:c.*157C>T	XP_024302568.1:n.*157C>T
NM_000535.7:c.*157C>T MANE Select	NP_000526.2:n.*157C>T
NM_001322003.2:c.*157C>T	NP_001308932.1:n.*157C>T
NM_001322004.2:c.*157C>T	NP_001308933.1:n.*157C>T
NM_001322005.2:c.*157C>T	NP_001308934.1:n.*157C>T
NM_001322006.2:c.*157C>T	NP_001308935.1:n.*157C>T
NM_001322008.2:c.*157C>T	NP_001308937.1:n.*157C>T
NM_001322009.2:c.*157C>T	NP_001308938.1:n.*157C>T
NM_001322010.2:c.*157C>T	NP_001308939.1:n.*157C>T
NM_001322011.2:c.*157C>T	NP_001308940.1:n.*157C>T
NM_001322012.2:c.*157C>T	NP_001308941.1:n.*157C>T
NM_001322013.2:c.*157C>T	NP_001308942.1:n.*157C>T
NM_001322014.2:c.*157C>T	NP_001308943.1:n.*157C>T
NM_001322015.2:c.*157C>T	NP_001308944.1:n.*157C>T
NM_001322007.2:c.*157C>T	NP_001308936.1:n.*157C>T