Canonical Allele Identifier: CA725527398
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1160121107
gnomAD v3: 16-8806234-G-T
gnomAD v4: 16-8806234-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8806234G>T , CM000678.2:g.8806234G>T GRCh38
NC_000016.9:g.8900091G>T , CM000678.1:g.8900091G>T GRCh37
NC_000016.8:g.8807592G>T NCBI36
NG_009209.1:g.13422G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.256-82G>T ENSP00000507849.1:n.256-82G>T
ENST00000682393.1:c.178+4324G>T ENSP00000506774.1:n.178+4324G>T
ENST00000683094.1:c.179-82G>T ENSP00000508230.1:n.179-82G>T
ENST00000683274.1:c.256-82G>T ENSP00000507262.1:n.256-82G>T
ENST00000683435.1:c.*252-82G>T ENSP00000508092.1:n.*252-82G>T
ENST00000268261.9:c.256-82G>T MANE Select ENSP00000268261.4:n.256-82G>T
ENST00000268261.8:c.256-82G>T ENSP00000268261.4:n.256-82G>T
ENST00000562318.5:c.179-82G>T ENSP00000454395.1:n.179-82G>T
ENST00000562448.1:n.220-82G>T
ENST00000564030.5:n.318-82G>T
ENST00000564069.1:c.227-82G>T
ENST00000565221.5:c.178+4324G>T ENSP00000457932.1:n.178+4324G>T
ENST00000565896.5:c.*145+3845G>T ENSP00000456024.1:n.*145+3845G>T
ENST00000566540.5:c.179-82G>T ENSP00000454284.1:n.179-82G>T
ENST00000566604.5:c.256-82G>T ENSP00000456774.1:n.256-82G>T
ENST00000566983.5:c.175-82G>T ENSP00000457956.1:n.175-82G>T
ENST00000568602.5:c.*109-82G>T ENSP00000455066.1:n.*109-82G>T
ENST00000569958.5:c.178+4324G>T ENSP00000456302.1:n.178+4324G>T
ENST00000570076.5:c.178+4324G>T ENSP00000456961.1:n.178+4324G>T
ENST00000570134.5:c.179-82G>T ENSP00000456275.1:n.179-82G>T
NM_000303.2:c.256-82G>T NP_000294.1:n.256-82G>T
XM_005255372.3:c.256-82G>T XP_005255429.1:n.256-82G>T
XM_005255373.3:c.7-82G>T XP_005255430.1:n.7-82G>T
XM_005255374.3:c.7-82G>T XP_005255431.1:n.7-82G>T
XM_011522538.1:c.256-82G>T XP_011520840.1:n.256-82G>T
XM_011522539.1:c.-29+4324G>T XP_011520841.1:n.-29+4324G>T
XM_005255374.4:c.7-82G>T XP_005255431.1:n.7-82G>T
NM_000303.3:c.256-82G>T MANE Select NP_000294.1:n.256-82G>T