Canonical Allele Identifier: CA7894007

Gene: PMM2

Linked Data

• dbSNP Id: rs748035028
• ExAC: 16:8900259 G / A
• gnomAD v2: 16-8900259-G-A
• gnomAD v4: 16-8806402-G-A
• MyVariant Identifiers: chr16:g.8900259G>A (hg19) ; chr16:g.8806402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806402G>A , CM000678.2:g.8806402G>A	GRCh38
NC_000016.9:g.8900259G>A , CM000678.1:g.8900259G>A	GRCh37
NC_000016.8:g.8807760G>A	NCBI36
NG_009209.1:g.13590G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.342G>A	ENSP00000507849.1:p.Lys114=
ENST00000682393.1:c.178+4492G>A	ENSP00000506774.1:n.178+4492G>A
ENST00000683094.1:c.*64G>A	ENSP00000508230.1:n.*64G>A
ENST00000683274.1:c.342G>A	ENSP00000507262.1:p.Lys114=
ENST00000683435.1:c.*338G>A	ENSP00000508092.1:n.*338G>A
ENST00000268261.9:c.342G>A MANE Select	ENSP00000268261.4:p.Lys114=
ENST00000268261.8:c.342G>A	ENSP00000268261.4:p.Lys114=
ENST00000562318.5:c.*64G>A	ENSP00000454395.1:n.*64G>A
ENST00000562448.1:n.306G>A
ENST00000564030.5:n.404G>A
ENST00000564069.1:c.313G>A
ENST00000565221.5:c.178+4492G>A	ENSP00000457932.1:n.178+4492G>A
ENST00000565896.5:c.*145+4013G>A	ENSP00000456024.1:n.*145+4013G>A
ENST00000566540.5:c.*64G>A	ENSP00000454284.1:n.*64G>A
ENST00000566604.5:c.342G>A	ENSP00000456774.1:p.Lys114=
ENST00000566983.5:c.261G>A	ENSP00000457956.1:p.Lys87=
ENST00000568602.5:c.*195G>A	ENSP00000455066.1:n.*195G>A
ENST00000569958.5:c.178+4492G>A	ENSP00000456302.1:n.178+4492G>A
ENST00000570076.5:c.178+4492G>A	ENSP00000456961.1:n.178+4492G>A
ENST00000570134.5:c.*64G>A	ENSP00000456275.1:n.*64G>A
NM_000303.2:c.342G>A	NP_000294.1:p.Lys114=
XM_005255372.3:c.342G>A	XP_005255429.1:p.Lys114=
XM_005255373.3:c.93G>A	XP_005255430.1:p.Lys31=
XM_005255374.3:c.93G>A	XP_005255431.1:p.Lys31=
XM_011522538.1:c.342G>A	XP_011520840.1:p.Lys114=
XM_011522539.1:c.-29+4492G>A	XP_011520841.1:n.-29+4492G>A
XM_005255374.4:c.93G>A	XP_005255431.1:p.Lys31=
NM_000303.3:c.342G>A MANE Select	NP_000294.1:p.Lys114=