Canonical Allele Identifier: CA394696548

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8904964A>C (hg19) ; chr16:g.8811107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811107A>C , CM000678.2:g.8811107A>C	GRCh38
NC_000016.9:g.8904964A>C , CM000678.1:g.8904964A>C	GRCh37
NC_000016.8:g.8812465A>C	NCBI36
NG_009209.1:g.18295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3544A>C
ENST00000682008.1:c.376A>C	ENSP00000507849.1:p.Met126Leu
ENST00000682393.1:c.207A>C	ENSP00000506774.1:p.Gly69=
ENST00000683094.1:c.*70-531A>C	ENSP00000508230.1:n.*70-531A>C
ENST00000683274.1:c.348-531A>C	ENSP00000507262.1:n.348-531A>C
ENST00000683435.1:c.*344-531A>C	ENSP00000508092.1:n.*344-531A>C
ENST00000268261.9:c.376A>C MANE Select	ENSP00000268261.4:p.Met126Leu
ENST00000268261.8:c.376A>C	ENSP00000268261.4:p.Met126Leu
ENST00000562318.5:c.*98A>C	ENSP00000454395.1:n.*98A>C
ENST00000564069.1:c.347A>C
ENST00000565221.5:c.207A>C	ENSP00000457932.1:p.Gly69=
ENST00000565896.5:c.*174A>C	ENSP00000456024.1:n.*174A>C
ENST00000566540.5:c.*70-531A>C	ENSP00000454284.1:n.*70-531A>C
ENST00000566604.5:c.348-531A>C	ENSP00000456774.1:n.348-531A>C
ENST00000566983.5:c.295A>C	ENSP00000457956.1:p.Met99Leu
ENST00000567697.1:n.3544A>C
ENST00000568602.5:c.*229A>C	ENSP00000455066.1:n.*229A>C
ENST00000569958.5:c.179-535A>C	ENSP00000456302.1:n.179-535A>C
ENST00000570076.5:c.179-531A>C	ENSP00000456961.1:n.179-531A>C
ENST00000570134.5:c.*70-531A>C	ENSP00000456275.1:n.*70-531A>C
NM_000303.2:c.376A>C	NP_000294.1:p.Met126Leu
XM_005255372.3:c.376A>C	XP_005255429.1:p.Met126Leu
XM_005255373.3:c.127A>C	XP_005255430.1:p.Met43Leu
XM_005255374.3:c.127A>C	XP_005255431.1:p.Met43Leu
XM_011522538.1:c.376A>C	XP_011520840.1:p.Met126Leu
XM_011522539.1:c.1A>C	XP_011520841.1:p.Met1Leu
XM_005255374.4:c.127A>C	XP_005255431.1:p.Met43Leu
NM_000303.3:c.376A>C MANE Select	NP_000294.1:p.Met126Leu