Canonical Allele Identifier: CA2631641774

Gene: PMM2

Linked Data

• gnomAD v4: 16-8797833-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797833G>T , CM000678.2:g.8797833G>T	GRCh38
NC_000016.9:g.8891690G>T , CM000678.1:g.8891690G>T	GRCh37
NC_000016.8:g.8799191G>T	NCBI36
NG_009209.1:g.5021G>T
NG_033146.1:g.4816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-50G>T	ENSP00000507849.1:n.-50G>T
ENST00000683094.1:c.-50G>T	ENSP00000508230.1:n.-50G>T
ENST00000683435.1:c.-50G>T	ENSP00000508092.1:n.-50G>T
ENST00000268261.8:c.-50G>T	ENSP00000268261.4:n.-50G>T
ENST00000564030.5:n.13G>T
ENST00000566983.5:c.-15-3966G>T	ENSP00000457956.1:n.-15-3966G>T
NM_000303.2:c.-50G>T	NP_000294.1:n.-50G>T
XM_005255372.3:c.-50G>T	XP_005255429.1:n.-50G>T
XM_005255373.3:c.-222G>T	XP_005255430.1:n.-222G>T
XM_005255374.3:c.-222G>T	XP_005255431.1:n.-222G>T
XM_011522538.1:c.-50G>T	XP_011520840.1:n.-50G>T
XM_005255374.4:c.-222G>T	XP_005255431.1:n.-222G>T