Canonical Allele Identifier: CA620724080

Gene: PMM2

Linked Data

• dbSNP Id: rs1406738384
• gnomAD v2: 16-8941448-G-C
• gnomAD v3: 16-8847591-G-C
• gnomAD v4: 16-8847591-G-C
• MyVariant Identifiers: chr16:g.8941448G>C (hg19) ; chr16:g.8847591G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847591G>C , CM000678.2:g.8847591G>C	GRCh38
NC_000016.9:g.8941448G>C , CM000678.1:g.8941448G>C	GRCh37
NC_000016.8:g.8848949G>C	NCBI36
NG_009209.1:g.54779G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-133G>C
ENST00000682393.1:c.*258-1778G>C	ENSP00000506774.1:n.*258-1778G>C
ENST00000683094.1:c.*262-1778G>C	ENSP00000508230.1:n.*262-1778G>C
ENST00000683274.1:c.*180-1778G>C	ENSP00000507262.1:n.*180-1778G>C
ENST00000683435.1:c.*536-133G>C	ENSP00000508092.1:n.*536-133G>C
ENST00000268261.9:c.640-133G>C MANE Select	ENSP00000268261.4:n.640-133G>C
ENST00000268261.8:c.640-133G>C	ENSP00000268261.4:n.640-133G>C
ENST00000562025.1:n.174-133G>C
ENST00000562318.5:c.*362-133G>C	ENSP00000454395.1:n.*362-133G>C
ENST00000565221.5:c.*258-133G>C	ENSP00000457932.1:n.*258-133G>C
ENST00000566540.5:c.*262-133G>C	ENSP00000454284.1:n.*262-133G>C
ENST00000566604.5:c.*180-133G>C	ENSP00000456774.1:n.*180-133G>C
ENST00000566983.5:c.559-133G>C	ENSP00000457956.1:n.559-133G>C
ENST00000567697.1:n.3808-133G>C
ENST00000569958.5:c.367-133G>C	ENSP00000456302.1:n.367-133G>C
ENST00000570076.5:c.*98-133G>C	ENSP00000456961.1:n.*98-133G>C
NM_000303.2:c.640-133G>C	NP_000294.1:n.640-133G>C
XM_005255374.3:c.391-133G>C	XP_005255431.1:n.391-133G>C
XM_011522538.1:c.640-7443G>C	XP_011520840.1:n.640-7443G>C
XM_005255374.4:c.391-133G>C	XP_005255431.1:n.391-133G>C
NM_000303.3:c.640-133G>C MANE Select	NP_000294.1:n.640-133G>C