Canonical Allele Identifier: CA974430806

Gene: PMM2

Linked Data

• dbSNP Id: rs2060589252
• gnomAD v3: 16-8797992-G-C
• gnomAD v4: 16-8797992-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797992G>C , CM000678.2:g.8797992G>C	GRCh38
NC_000016.9:g.8891849G>C , CM000678.1:g.8891849G>C	GRCh37
NC_000016.8:g.8799350G>C	NCBI36
NG_009209.1:g.5180G>C
NG_033146.1:g.4657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.66+44G>C	ENSP00000507849.1:n.66+44G>C
ENST00000682393.1:c.66+44G>C	ENSP00000506774.1:n.66+44G>C
ENST00000683094.1:c.66+44G>C	ENSP00000508230.1:n.66+44G>C
ENST00000683274.1:c.66+44G>C	ENSP00000507262.1:n.66+44G>C
ENST00000683435.1:c.66+44G>C	ENSP00000508092.1:n.66+44G>C
ENST00000268261.9:c.66+44G>C MANE Select	ENSP00000268261.4:n.66+44G>C
ENST00000268261.8:c.66+44G>C	ENSP00000268261.4:n.66+44G>C
ENST00000562318.5:c.66+44G>C	ENSP00000454395.1:n.66+44G>C
ENST00000562448.1:n.107+44G>C
ENST00000564030.5:n.128+44G>C
ENST00000564069.1:c.37+44G>C
ENST00000565221.5:c.66+44G>C	ENSP00000457932.1:n.66+44G>C
ENST00000565896.5:c.66+44G>C	ENSP00000456024.1:n.66+44G>C
ENST00000566196.5:n.110+44G>C
ENST00000566540.5:c.66+44G>C	ENSP00000454284.1:n.66+44G>C
ENST00000566604.5:c.66+44G>C	ENSP00000456774.1:n.66+44G>C
ENST00000566983.5:c.-15-3807G>C	ENSP00000457956.1:n.-15-3807G>C
ENST00000568602.5:c.66+44G>C	ENSP00000455066.1:n.66+44G>C
ENST00000569958.5:c.66+44G>C	ENSP00000456302.1:n.66+44G>C
ENST00000570076.5:c.66+44G>C	ENSP00000456961.1:n.66+44G>C
ENST00000570134.5:c.66+44G>C	ENSP00000456275.1:n.66+44G>C
NM_000303.2:c.66+44G>C	NP_000294.1:n.66+44G>C
XM_005255372.3:c.66+44G>C	XP_005255429.1:n.66+44G>C
XM_005255373.3:c.-107+44G>C	XP_005255430.1:n.-107+44G>C
XM_005255374.3:c.-107+44G>C	XP_005255431.1:n.-107+44G>C
XM_011522538.1:c.66+44G>C	XP_011520840.1:n.66+44G>C
XM_005255374.4:c.-107+44G>C	XP_005255431.1:n.-107+44G>C
NM_000303.3:c.66+44G>C MANE Select	NP_000294.1:n.66+44G>C