Canonical Allele Identifier: CA620724079

Gene: PMM2

Linked Data

• dbSNP Id: rs1240480566
• gnomAD v2: 16-8941431-T-TC
• gnomAD v3: 16-8847574-T-TC
• gnomAD v4: 16-8847574-T-TC
• MyVariant Identifiers: chr16:g.8941431_8941432insC (hg19) ; chr16:g.8847574_8847575insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847575dup , CM000678.2:g.8847575dup	GRCh38
NC_000016.9:g.8941432dup , CM000678.1:g.8941432dup	GRCh37
NC_000016.8:g.8848933dup	NCBI36
NG_009209.1:g.54763dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-149dup
ENST00000682393.1:c.*258-1794dup	ENSP00000506774.1:n.*258-1794dup
ENST00000683094.1:c.*262-1794dup	ENSP00000508230.1:n.*262-1794dup
ENST00000683274.1:c.*180-1794dup	ENSP00000507262.1:n.*180-1794dup
ENST00000683435.1:c.*536-149dup	ENSP00000508092.1:n.*536-149dup
ENST00000268261.9:c.640-149dup MANE Select	ENSP00000268261.4:n.640-149dup
ENST00000268261.8:c.640-149dup	ENSP00000268261.4:n.640-149dup
ENST00000562025.1:n.174-149dup
ENST00000562318.5:c.*362-149dup	ENSP00000454395.1:n.*362-149dup
ENST00000565221.5:c.*258-149dup	ENSP00000457932.1:n.*258-149dup
ENST00000566540.5:c.*262-149dup	ENSP00000454284.1:n.*262-149dup
ENST00000566604.5:c.*180-149dup	ENSP00000456774.1:n.*180-149dup
ENST00000566983.5:c.559-149dup	ENSP00000457956.1:n.559-149dup
ENST00000567697.1:n.3808-149dup
ENST00000569958.5:c.367-149dup	ENSP00000456302.1:n.367-149dup
ENST00000570076.5:c.*98-149dup	ENSP00000456961.1:n.*98-149dup
NM_000303.2:c.640-149dup	NP_000294.1:n.640-149dup
XM_005255374.3:c.391-149dup	XP_005255431.1:n.391-149dup
XM_011522538.1:c.640-7459dup	XP_011520840.1:n.640-7459dup
XM_005255374.4:c.391-149dup	XP_005255431.1:n.391-149dup
NM_000303.3:c.640-149dup MANE Select	NP_000294.1:n.640-149dup