Canonical Allele Identifier: CA394696344

Gene: PMM2

Linked Data

• ClinVar Variation Id: 1724935
• ClinVar RCV Id: RCV002307994
• MyVariant Identifiers: chr16:g.8900257A>T (hg19) ; chr16:g.8806400A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806400A>T , CM000678.2:g.8806400A>T	GRCh38
NC_000016.9:g.8900257A>T , CM000678.1:g.8900257A>T	GRCh37
NC_000016.8:g.8807758A>T	NCBI36
NG_009209.1:g.13588A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.340A>T	ENSP00000507849.1:p.Lys114Ter
ENST00000682393.1:c.178+4490A>T	ENSP00000506774.1:n.178+4490A>T
ENST00000683094.1:c.*62A>T	ENSP00000508230.1:n.*62A>T
ENST00000683274.1:c.340A>T	ENSP00000507262.1:p.Lys114Ter
ENST00000683435.1:c.*336A>T	ENSP00000508092.1:n.*336A>T
ENST00000268261.9:c.340A>T MANE Select	ENSP00000268261.4:p.Lys114Ter
ENST00000268261.8:c.340A>T	ENSP00000268261.4:p.Lys114Ter
ENST00000562318.5:c.*62A>T	ENSP00000454395.1:n.*62A>T
ENST00000562448.1:n.304A>T
ENST00000564030.5:n.402A>T
ENST00000564069.1:c.311A>T
ENST00000565221.5:c.178+4490A>T	ENSP00000457932.1:n.178+4490A>T
ENST00000565896.5:c.*145+4011A>T	ENSP00000456024.1:n.*145+4011A>T
ENST00000566540.5:c.*62A>T	ENSP00000454284.1:n.*62A>T
ENST00000566604.5:c.340A>T	ENSP00000456774.1:p.Lys114Ter
ENST00000566983.5:c.259A>T	ENSP00000457956.1:p.Lys87Ter
ENST00000568602.5:c.*193A>T	ENSP00000455066.1:n.*193A>T
ENST00000569958.5:c.178+4490A>T	ENSP00000456302.1:n.178+4490A>T
ENST00000570076.5:c.178+4490A>T	ENSP00000456961.1:n.178+4490A>T
ENST00000570134.5:c.*62A>T	ENSP00000456275.1:n.*62A>T
NM_000303.2:c.340A>T	NP_000294.1:p.Lys114Ter
XM_005255372.3:c.340A>T	XP_005255429.1:p.Lys114Ter
XM_005255373.3:c.91A>T	XP_005255430.1:p.Lys31Ter
XM_005255374.3:c.91A>T	XP_005255431.1:p.Lys31Ter
XM_011522538.1:c.340A>T	XP_011520840.1:p.Lys114Ter
XM_011522539.1:c.-29+4490A>T	XP_011520841.1:n.-29+4490A>T
XM_005255374.4:c.91A>T	XP_005255431.1:p.Lys31Ter
NM_000303.3:c.340A>T MANE Select	NP_000294.1:p.Lys114Ter