Canonical Allele Identifier: CA394694829

Gene: PMM2

Linked Data

• dbSNP Id: rs755237333
• gnomAD v2: 16-8891773-G-T
• gnomAD v3: 16-8797916-G-T
• gnomAD v4: 16-8797916-G-T
• MyVariant Identifiers: chr16:g.8891773G>T (hg19) ; chr16:g.8797916G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797916G>T , CM000678.2:g.8797916G>T	GRCh38
NC_000016.9:g.8891773G>T , CM000678.1:g.8891773G>T	GRCh37
NC_000016.8:g.8799274G>T	NCBI36
NG_009209.1:g.5104G>T
NG_033146.1:g.4733C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.34G>T	ENSP00000507849.1:p.Asp12Tyr
ENST00000682393.1:c.34G>T	ENSP00000506774.1:p.Asp12Tyr
ENST00000683094.1:c.34G>T	ENSP00000508230.1:p.Asp12Tyr
ENST00000683274.1:c.34G>T	ENSP00000507262.1:p.Asp12Tyr
ENST00000683435.1:c.34G>T	ENSP00000508092.1:p.Asp12Tyr
ENST00000268261.9:c.34G>T MANE Select	ENSP00000268261.4:p.Asp12Tyr
ENST00000268261.8:c.34G>T	ENSP00000268261.4:p.Asp12Tyr
ENST00000562318.5:c.34G>T	ENSP00000454395.1:p.Asp12Tyr
ENST00000562448.1:n.75G>T
ENST00000564030.5:n.96G>T
ENST00000564069.1:c.5G>T
ENST00000565221.5:c.34G>T	ENSP00000457932.1:p.Asp12Tyr
ENST00000565896.5:c.34G>T	ENSP00000456024.1:p.Asp12Tyr
ENST00000566196.5:n.78G>T
ENST00000566540.5:c.34G>T	ENSP00000454284.1:p.Asp12Tyr
ENST00000566604.5:c.34G>T	ENSP00000456774.1:p.Asp12Tyr
ENST00000566983.5:c.-15-3883G>T	ENSP00000457956.1:n.-15-3883G>T
ENST00000568602.5:c.34G>T	ENSP00000455066.1:p.Asp12Tyr
ENST00000569958.5:c.34G>T	ENSP00000456302.1:p.Asp12Tyr
ENST00000570076.5:c.34G>T	ENSP00000456961.1:p.Asp12Tyr
ENST00000570134.5:c.34G>T	ENSP00000456275.1:p.Asp12Tyr
NM_000303.2:c.34G>T	NP_000294.1:p.Asp12Tyr
XM_005255372.3:c.34G>T	XP_005255429.1:p.Asp12Tyr
XM_005255373.3:c.-139G>T	XP_005255430.1:n.-139G>T
XM_005255374.3:c.-139G>T	XP_005255431.1:n.-139G>T
XM_011522538.1:c.34G>T	XP_011520840.1:p.Asp12Tyr
XM_005255374.4:c.-139G>T	XP_005255431.1:n.-139G>T
NM_000303.3:c.34G>T MANE Select	NP_000294.1:p.Asp12Tyr