Canonical Allele Identifier: CA2631643611

Gene: PMM2

Linked Data

• gnomAD v4: 16-8810920-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8810920A>C , CM000678.2:g.8810920A>C	GRCh38
NC_000016.9:g.8904777A>C , CM000678.1:g.8904777A>C	GRCh37
NC_000016.8:g.8812278A>C	NCBI36
NG_009209.1:g.18108A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3357A>C
ENST00000682008.1:c.348-159A>C	ENSP00000507849.1:n.348-159A>C
ENST00000682393.1:c.179-159A>C	ENSP00000506774.1:n.179-159A>C
ENST00000683094.1:c.*70-718A>C	ENSP00000508230.1:n.*70-718A>C
ENST00000683274.1:c.348-718A>C	ENSP00000507262.1:n.348-718A>C
ENST00000683435.1:c.*344-718A>C	ENSP00000508092.1:n.*344-718A>C
ENST00000268261.9:c.348-159A>C MANE Select	ENSP00000268261.4:n.348-159A>C
ENST00000268261.8:c.348-159A>C	ENSP00000268261.4:n.348-159A>C
ENST00000562318.5:c.*70-159A>C	ENSP00000454395.1:n.*70-159A>C
ENST00000564069.1:c.319-159A>C
ENST00000565221.5:c.179-159A>C	ENSP00000457932.1:n.179-159A>C
ENST00000565896.5:c.*146-159A>C	ENSP00000456024.1:n.*146-159A>C
ENST00000566540.5:c.*70-718A>C	ENSP00000454284.1:n.*70-718A>C
ENST00000566604.5:c.348-718A>C	ENSP00000456774.1:n.348-718A>C
ENST00000566983.5:c.267-159A>C	ENSP00000457956.1:n.267-159A>C
ENST00000567697.1:n.3357A>C
ENST00000568602.5:c.*201-159A>C	ENSP00000455066.1:n.*201-159A>C
ENST00000569958.5:c.179-722A>C	ENSP00000456302.1:n.179-722A>C
ENST00000570076.5:c.179-718A>C	ENSP00000456961.1:n.179-718A>C
ENST00000570134.5:c.*70-718A>C	ENSP00000456275.1:n.*70-718A>C
NM_000303.2:c.348-159A>C	NP_000294.1:n.348-159A>C
XM_005255372.3:c.348-159A>C	XP_005255429.1:n.348-159A>C
XM_005255373.3:c.99-159A>C	XP_005255430.1:n.99-159A>C
XM_005255374.3:c.99-159A>C	XP_005255431.1:n.99-159A>C
XM_011522538.1:c.348-159A>C	XP_011520840.1:n.348-159A>C
XM_011522539.1:c.-28-159A>C	XP_011520841.1:n.-28-159A>C
XM_005255374.4:c.99-159A>C	XP_005255431.1:n.99-159A>C
NM_000303.3:c.348-159A>C MANE Select	NP_000294.1:n.348-159A>C