Canonical Allele Identifier: CA2206128232

Gene: PMM2

Linked Data

• dbSNP Id: rs1416372281

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797838C>G , CM000678.2:g.8797838C>G	GRCh38
NC_000016.9:g.8891695C>G , CM000678.1:g.8891695C>G	GRCh37
NC_000016.8:g.8799196C>G	NCBI36
NG_009209.1:g.5026C>G
NG_033146.1:g.4811G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-45C>G	ENSP00000507849.1:n.-45C>G
ENST00000683094.1:c.-45C>G	ENSP00000508230.1:n.-45C>G
ENST00000683435.1:c.-45C>G	ENSP00000508092.1:n.-45C>G
ENST00000268261.8:c.-45C>G	ENSP00000268261.4:n.-45C>G
ENST00000564030.5:n.18C>G
ENST00000566604.5:c.-45C>G	ENSP00000456774.1:n.-45C>G
ENST00000566983.5:c.-15-3961C>G	ENSP00000457956.1:n.-15-3961C>G
ENST00000570134.5:c.-45C>G	ENSP00000456275.1:n.-45C>G
NM_000303.2:c.-45C>G	NP_000294.1:n.-45C>G
XM_005255372.3:c.-45C>G	XP_005255429.1:n.-45C>G
XM_005255373.3:c.-217C>G	XP_005255430.1:n.-217C>G
XM_005255374.3:c.-217C>G	XP_005255431.1:n.-217C>G
XM_011522538.1:c.-45C>G	XP_011520840.1:n.-45C>G
XM_005255374.4:c.-217C>G	XP_005255431.1:n.-217C>G