Canonical Allele Identifier: CA10336990
Gene: GYG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2843266G>A , CM000685.2:g.2843266G>A GRCh38
NC_000023.10:g.2761307G>A , CM000685.1:g.2761307G>A GRCh37
NC_000023.9:g.2771307G>A NCBI36
NG_021257.1:g.19445G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001079855.2:c.61G>A MANE Select NP_001073324.1:p.Ala21Thr
ENST00000398806.8:c.61G>A MANE Select ENSP00000381786.3:p.Ala21Thr
NM_001079855.1:c.61G>A NP_001073324.1:p.Ala21Thr
NM_001184702.1:c.61G>A NP_001171631.1:p.Ala21Thr
NM_001184702.2:c.61G>A NP_001171631.1:p.Ala21Thr
NM_001184703.1:c.154G>A NP_001171632.1:p.Ala52Thr
NM_001184703.2:c.154G>A NP_001171632.1:p.Ala52Thr
NM_001184704.1:c.-316-10714G>A NP_001171633.1:n.-316-10714G>A
NM_001184704.2:c.-316-10714G>A NP_001171633.1:n.-316-10714G>A
NM_003918.2:c.154G>A NP_003909.2:p.Ala52Thr
NM_003918.3:c.154G>A NP_003909.2:p.Ala52Thr
ENST00000353656.10:c.154G>A ENSP00000487294.1:p.Ala52Thr
ENST00000381161.5:n.198-10714G>A
ENST00000381163.7:c.154G>A ENSP00000370555.3:p.Ala52Thr
ENST00000398806.7:c.61G>A ENSP00000381786.3:p.Ala21Thr
ENST00000469234.6:n.189G>A
ENST00000520904.3:c.61G>A ENSP00000430764.1:p.Ala21Thr
ENST00000639373.1:c.154G>A ENSP00000491962.1:p.Ala52Thr
XM_006724521.2:c.154G>A XP_006724584.1:p.Ala52Thr
XM_011545600.1:c.61G>A XP_011543902.1:p.Ala21Thr
XM_011545600.2:c.61G>A XP_011543902.1:p.Ala21Thr
XM_011545601.1:c.148G>A XP_011543903.1:p.Ala50Thr
XM_011545602.1:c.-316-10714G>A XP_011543904.1:n.-316-10714G>A
XM_017029927.1:c.154G>A XP_016885416.1:p.Ala52Thr
XM_017029928.1:c.154G>A XP_016885417.1:p.Ala52Thr
XM_017029929.1:c.154G>A XP_016885418.1:p.Ala52Thr
XM_017029930.1:c.61G>A XP_016885419.1:p.Ala21Thr
XM_017029931.1:c.61G>A XP_016885420.1:p.Ala21Thr