Canonical Allele Identifier: CA2681676006

Gene: PMS2

Linked Data

• gnomAD v4: 7-5973209-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973209A>G , CM000669.2:g.5973209A>G	GRCh38
NC_000007.13:g.6012840A>G , CM000669.1:g.6012840A>G	GRCh37
NC_000007.12:g.5979366A>G	NCBI36
NG_008466.1:g.40898T>C , LRG_161:g.40898T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*2175T>C	ENSP00000514615.2:n.*2175T>C
ENST00000699930.2:c.*190T>C	ENSP00000514695.2:n.*190T>C
ENST00000699752.1:c.*190T>C	ENSP00000514561.1:n.*190T>C
ENST00000699753.1:c.*2200T>C	ENSP00000514562.1:n.*2200T>C
ENST00000699754.1:c.*190T>C	ENSP00000514563.1:n.*190T>C
ENST00000699755.1:c.*2178T>C	ENSP00000514564.1:n.*2178T>C
ENST00000699756.1:c.*2366T>C	ENSP00000514565.1:n.*2366T>C
ENST00000699757.1:c.*2036T>C	ENSP00000514566.1:n.*2036T>C
ENST00000699758.1:c.*2036T>C	ENSP00000514567.1:n.*2036T>C
ENST00000699759.1:n.3633T>C
ENST00000699760.1:c.*190T>C	ENSP00000514568.1:n.*190T>C
ENST00000699761.1:c.*190T>C	ENSP00000514569.1:n.*190T>C
ENST00000699762.1:c.*190T>C	ENSP00000514570.1:n.*190T>C
ENST00000699763.1:c.*1869T>C	ENSP00000514571.1:n.*1869T>C
ENST00000699764.1:c.*1097T>C	ENSP00000514572.1:n.*1097T>C
ENST00000699765.1:c.*1774T>C	ENSP00000514573.1:n.*1774T>C
ENST00000699766.1:c.*190T>C	ENSP00000514574.1:n.*190T>C
ENST00000699767.1:c.*420T>C	ENSP00000514575.1:n.*420T>C
ENST00000699768.1:c.*190T>C	ENSP00000514576.1:n.*190T>C
ENST00000699811.1:c.*190T>C	ENSP00000514614.1:n.*190T>C
ENST00000699813.1:n.2892T>C
ENST00000699814.1:c.2402T>C
ENST00000699815.1:c.*2310T>C	ENSP00000514616.1:n.*2310T>C
ENST00000699816.1:c.*1669T>C	ENSP00000514617.1:n.*1669T>C
ENST00000699817.1:c.*2373T>C	ENSP00000514618.1:n.*2373T>C
ENST00000699818.1:c.*190T>C	ENSP00000514619.1:n.*190T>C
ENST00000699819.1:c.*1936T>C	ENSP00000514620.1:n.*1936T>C
ENST00000699820.1:c.*717T>C	ENSP00000514621.1:n.*717T>C
ENST00000699821.1:c.*190T>C	ENSP00000514622.1:n.*190T>C
ENST00000699833.1:n.4551T>C
ENST00000699838.1:c.*2679T>C	ENSP00000514636.1:n.*2679T>C
ENST00000699839.1:c.*190T>C	ENSP00000514637.1:n.*190T>C
ENST00000699916.1:c.*2036T>C	ENSP00000514684.1:n.*2036T>C
ENST00000699917.1:c.*2228T>C	ENSP00000514685.1:n.*2228T>C
ENST00000699918.1:c.*2280T>C	ENSP00000514686.1:n.*2280T>C
ENST00000699919.1:c.*2366T>C	ENSP00000514687.1:n.*2366T>C
ENST00000699920.1:c.*2415T>C	ENSP00000514688.1:n.*2415T>C
ENST00000699928.1:c.*717T>C	ENSP00000514693.1:n.*717T>C
ENST00000265849.12:c.*190T>C MANE Select	ENSP00000265849.7:n.*190T>C
XM_006715742.2:c.*190T>C	XP_006715805.1:n.*190T>C
XM_006715744.2:c.*190T>C	XP_006715807.1:n.*190T>C
XM_011515427.1:c.*190T>C	XP_011513729.1:n.*190T>C
XM_011515428.1:c.*190T>C	XP_011513730.1:n.*190T>C
XM_011515429.1:c.*190T>C	XP_011513731.1:n.*190T>C
XM_011515430.1:c.*190T>C	XP_011513732.1:n.*190T>C
NM_000535.6:c.*190T>C	NP_000526.2:n.*190T>C
NM_001322003.1:c.*190T>C	NP_001308932.1:n.*190T>C
NM_001322004.1:c.*190T>C	NP_001308933.1:n.*190T>C
NM_001322005.1:c.*190T>C	NP_001308934.1:n.*190T>C
NM_001322006.1:c.*190T>C	NP_001308935.1:n.*190T>C
NM_001322007.1:c.*190T>C	NP_001308936.1:n.*190T>C
NM_001322008.1:c.*190T>C	NP_001308937.1:n.*190T>C
NM_001322009.1:c.*190T>C	NP_001308938.1:n.*190T>C
NM_001322010.1:c.*190T>C	NP_001308939.1:n.*190T>C
NM_001322011.1:c.*190T>C	NP_001308940.1:n.*190T>C
NM_001322012.1:c.*190T>C	NP_001308941.1:n.*190T>C
NM_001322013.1:c.*190T>C	NP_001308942.1:n.*190T>C
NM_001322014.1:c.*190T>C	NP_001308943.1:n.*190T>C
NM_001322015.1:c.*190T>C	NP_001308944.1:n.*190T>C
NR_136154.1:n.2823T>C
XM_006715744.4:c.*190T>C	XP_006715807.1:n.*190T>C
XM_017012342.2:c.*190T>C	XP_016867831.1:n.*190T>C
XM_024446800.1:c.*190T>C	XP_024302568.1:n.*190T>C
NM_000535.7:c.*190T>C MANE Select	NP_000526.2:n.*190T>C
NM_001322003.2:c.*190T>C	NP_001308932.1:n.*190T>C
NM_001322004.2:c.*190T>C	NP_001308933.1:n.*190T>C
NM_001322005.2:c.*190T>C	NP_001308934.1:n.*190T>C
NM_001322006.2:c.*190T>C	NP_001308935.1:n.*190T>C
NM_001322008.2:c.*190T>C	NP_001308937.1:n.*190T>C
NM_001322009.2:c.*190T>C	NP_001308938.1:n.*190T>C
NM_001322010.2:c.*190T>C	NP_001308939.1:n.*190T>C
NM_001322011.2:c.*190T>C	NP_001308940.1:n.*190T>C
NM_001322012.2:c.*190T>C	NP_001308941.1:n.*190T>C
NM_001322013.2:c.*190T>C	NP_001308942.1:n.*190T>C
NM_001322014.2:c.*190T>C	NP_001308943.1:n.*190T>C
NM_001322015.2:c.*190T>C	NP_001308944.1:n.*190T>C
NM_001322007.2:c.*190T>C	NP_001308936.1:n.*190T>C