Canonical Allele Identifier: CA277481293

Gene: PMM2

Linked Data

• dbSNP Id: rs929414289
• MyVariant Identifiers: chr16:g.8891684C>T (hg19) ; chr16:g.8797827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797827C>T , CM000678.2:g.8797827C>T	GRCh38
NC_000016.9:g.8891684C>T , CM000678.1:g.8891684C>T	GRCh37
NC_000016.8:g.8799185C>T	NCBI36
NG_009209.1:g.5015C>T
NG_033146.1:g.4822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-56C>T	ENSP00000507849.1:n.-56C>T
ENST00000683435.1:c.-56C>T	ENSP00000508092.1:n.-56C>T
ENST00000268261.8:c.-56C>T	ENSP00000268261.4:n.-56C>T
ENST00000564030.5:n.7C>T
ENST00000566983.5:c.-15-3972C>T	ENSP00000457956.1:n.-15-3972C>T
NM_000303.2:c.-56C>T	NP_000294.1:n.-56C>T
XM_005255372.3:c.-56C>T	XP_005255429.1:n.-56C>T
XM_005255373.3:c.-228C>T	XP_005255430.1:n.-228C>T
XM_005255374.3:c.-228C>T	XP_005255431.1:n.-228C>T
XM_011522538.1:c.-56C>T	XP_011520840.1:n.-56C>T
XM_005255374.4:c.-228C>T	XP_005255431.1:n.-228C>T