Canonical Allele Identifier: CA620726931

Gene: PMM2

Linked Data

• dbSNP Id: rs1416372281
• gnomAD v2: 16-8891695-C-A
• gnomAD v4: 16-8797838-C-A
• MyVariant Identifiers: chr16:g.8891695C>A (hg19) ; chr16:g.8797838C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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