Canonical Allele Identifier: CA2631642386

Gene: PMM2

Linked Data

• gnomAD v4: 16-8806565-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806565G>C , CM000678.2:g.8806565G>C	GRCh38
NC_000016.9:g.8900422G>C , CM000678.1:g.8900422G>C	GRCh37
NC_000016.8:g.8807923G>C	NCBI36
NG_009209.1:g.13753G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.347+158G>C	ENSP00000507849.1:n.347+158G>C
ENST00000682393.1:c.179-4514G>C	ENSP00000506774.1:n.179-4514G>C
ENST00000683094.1:c.*69+158G>C	ENSP00000508230.1:n.*69+158G>C
ENST00000683274.1:c.347+158G>C	ENSP00000507262.1:n.347+158G>C
ENST00000683435.1:c.*343+158G>C	ENSP00000508092.1:n.*343+158G>C
ENST00000268261.9:c.347+158G>C MANE Select	ENSP00000268261.4:n.347+158G>C
ENST00000268261.8:c.347+158G>C	ENSP00000268261.4:n.347+158G>C
ENST00000562318.5:c.*69+158G>C	ENSP00000454395.1:n.*69+158G>C
ENST00000562448.1:n.469G>C
ENST00000564030.5:n.567G>C
ENST00000564069.1:c.318+158G>C
ENST00000565221.5:c.179-4514G>C	ENSP00000457932.1:n.179-4514G>C
ENST00000565896.5:c.*145+4176G>C	ENSP00000456024.1:n.*145+4176G>C
ENST00000566540.5:c.*69+158G>C	ENSP00000454284.1:n.*69+158G>C
ENST00000566604.5:c.347+158G>C	ENSP00000456774.1:n.347+158G>C
ENST00000566983.5:c.266+158G>C	ENSP00000457956.1:n.266+158G>C
ENST00000568602.5:c.*200+158G>C	ENSP00000455066.1:n.*200+158G>C
ENST00000569958.5:c.178+4655G>C	ENSP00000456302.1:n.178+4655G>C
ENST00000570076.5:c.178+4655G>C	ENSP00000456961.1:n.178+4655G>C
ENST00000570134.5:c.*69+158G>C	ENSP00000456275.1:n.*69+158G>C
NM_000303.2:c.347+158G>C	NP_000294.1:n.347+158G>C
XM_005255372.3:c.347+158G>C	XP_005255429.1:n.347+158G>C
XM_005255373.3:c.98+158G>C	XP_005255430.1:n.98+158G>C
XM_005255374.3:c.98+158G>C	XP_005255431.1:n.98+158G>C
XM_011522538.1:c.347+158G>C	XP_011520840.1:n.347+158G>C
XM_011522539.1:c.-28-4514G>C	XP_011520841.1:n.-28-4514G>C
XM_005255374.4:c.98+158G>C	XP_005255431.1:n.98+158G>C
NM_000303.3:c.347+158G>C MANE Select	NP_000294.1:n.347+158G>C