Canonical Allele Identifier: CA7893841

Gene: PMM2

Linked Data

• dbSNP Id: rs771526607
• ExAC: 16:8891722 C / T
• gnomAD v2: 16-8891722-C-T
• gnomAD v4: 16-8797865-C-T
• MyVariant Identifiers: chr16:g.8891722C>T (hg19) ; chr16:g.8797865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797865C>T , CM000678.2:g.8797865C>T	GRCh38
NC_000016.9:g.8891722C>T , CM000678.1:g.8891722C>T	GRCh37
NC_000016.8:g.8799223C>T	NCBI36
NG_009209.1:g.5053C>T
NG_033146.1:g.4784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-18C>T	ENSP00000507849.1:n.-18C>T
ENST00000682393.1:c.-18C>T	ENSP00000506774.1:n.-18C>T
ENST00000683094.1:c.-18C>T	ENSP00000508230.1:n.-18C>T
ENST00000683274.1:c.-18C>T	ENSP00000507262.1:n.-18C>T
ENST00000683435.1:c.-18C>T	ENSP00000508092.1:n.-18C>T
ENST00000268261.9:c.-18C>T MANE Select	ENSP00000268261.4:n.-18C>T
ENST00000268261.8:c.-18C>T	ENSP00000268261.4:n.-18C>T
ENST00000562318.5:c.-18C>T	ENSP00000454395.1:n.-18C>T
ENST00000562448.1:n.24C>T
ENST00000564030.5:n.45C>T
ENST00000565896.5:c.-18C>T	ENSP00000456024.1:n.-18C>T
ENST00000566196.5:n.27C>T
ENST00000566540.5:c.-18C>T	ENSP00000454284.1:n.-18C>T
ENST00000566604.5:c.-18C>T	ENSP00000456774.1:n.-18C>T
ENST00000566983.5:c.-15-3934C>T	ENSP00000457956.1:n.-15-3934C>T
ENST00000568602.5:c.-18C>T	ENSP00000455066.1:n.-18C>T
ENST00000570076.5:c.-18C>T	ENSP00000456961.1:n.-18C>T
ENST00000570134.5:c.-18C>T	ENSP00000456275.1:n.-18C>T
NM_000303.2:c.-18C>T	NP_000294.1:n.-18C>T
XM_005255372.3:c.-18C>T	XP_005255429.1:n.-18C>T
XM_005255373.3:c.-190C>T	XP_005255430.1:n.-190C>T
XM_005255374.3:c.-190C>T	XP_005255431.1:n.-190C>T
XM_011522538.1:c.-18C>T	XP_011520840.1:n.-18C>T
XM_005255374.4:c.-190C>T	XP_005255431.1:n.-190C>T
NM_000303.3:c.-18C>T MANE Select	NP_000294.1:n.-18C>T