Canonical Allele Identifier: CA493489838

Gene: PMM2

Linked Data

• dbSNP Id: rs2060939567
• gnomAD v3: 16-8847987-G-C
• gnomAD v4: 16-8847987-G-C
• MyVariant Identifiers: chr16:g.8941844G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847987G>C , CM000678.2:g.8847987G>C	GRCh38
NC_000016.9:g.8941844G>C , CM000678.1:g.8941844G>C	GRCh37
NC_000016.8:g.8849345G>C	NCBI36
NG_009209.1:g.55175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4071G>C
ENST00000682393.1:c.*258-1382G>C	ENSP00000506774.1:n.*258-1382G>C
ENST00000683094.1:c.*262-1382G>C	ENSP00000508230.1:n.*262-1382G>C
ENST00000683274.1:c.*180-1382G>C	ENSP00000507262.1:n.*180-1382G>C
ENST00000268261.9:c.*162G>C MANE Select	ENSP00000268261.4:n.*162G>C
ENST00000268261.8:c.*162G>C	ENSP00000268261.4:n.*162G>C
ENST00000562025.1:n.437G>C
ENST00000562318.5:c.*625G>C	ENSP00000454395.1:n.*625G>C
ENST00000565221.5:c.*521G>C	ENSP00000457932.1:n.*521G>C
ENST00000566540.5:c.*525G>C	ENSP00000454284.1:n.*525G>C
ENST00000566604.5:c.*443G>C	ENSP00000456774.1:n.*443G>C
ENST00000567697.1:n.4071G>C
ENST00000569958.5:c.*162G>C	ENSP00000456302.1:n.*162G>C
ENST00000570076.5:c.*361G>C	ENSP00000456961.1:n.*361G>C
NM_000303.2:c.*162G>C	NP_000294.1:n.*162G>C
XM_005255374.3:c.*162G>C	XP_005255431.1:n.*162G>C
XM_011522538.1:c.640-7047G>C	XP_011520840.1:n.640-7047G>C
XM_005255374.4:c.*162G>C	XP_005255431.1:n.*162G>C
NM_000303.3:c.*162G>C MANE Select	NP_000294.1:n.*162G>C