Canonical Allele Identifier: CA10336945
Community Standard Title: NM_001079855.2(GYG2):c.-49C>T
Gene: GYG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2830140C>T , CM000685.2:g.2830140C>T GRCh38
NC_000023.10:g.2748181C>T , CM000685.1:g.2748181C>T GRCh37
NC_000023.9:g.2758181C>T NCBI36
NG_021257.1:g.6319C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001079855.2:c.-49C>T MANE Select NP_001073324.1:n.-49C>T
ENST00000398806.8:c.-49C>T MANE Select ENSP00000381786.3:n.-49C>T
NM_001079855.1:c.-49C>T NP_001073324.1:n.-49C>T
NM_001184702.1:c.-49C>T NP_001171631.1:n.-49C>T
NM_001184702.2:c.-49C>T NP_001171631.1:n.-49C>T
NM_001184703.1:c.-49C>T NP_001171632.1:n.-49C>T
NM_001184703.2:c.-49C>T NP_001171632.1:n.-49C>T
NM_001184704.1:c.-372C>T NP_001171633.1:n.-372C>T
NM_001184704.2:c.-372C>T NP_001171633.1:n.-372C>T
NM_003918.2:c.-49C>T NP_003909.2:n.-49C>T
NM_003918.3:c.-49C>T NP_003909.2:n.-49C>T
ENST00000381161.5:n.142C>T
ENST00000381163.7:c.-49C>T ENSP00000370555.3:n.-49C>T
ENST00000398806.7:c.-49C>T ENSP00000381786.3:n.-49C>T
ENST00000469234.6:n.80C>T
ENST00000520904.3:c.-49C>T ENSP00000430764.1:n.-49C>T
XM_006724521.2:c.-49C>T XP_006724584.1:n.-49C>T
XM_011545600.1:c.-49C>T XP_011543902.1:n.-49C>T
XM_011545600.2:c.-49C>T XP_011543902.1:n.-49C>T
XM_011545601.1:c.-49C>T XP_011543903.1:n.-49C>T
XM_011545602.1:c.-372C>T XP_011543904.1:n.-372C>T
XM_017029927.1:c.-49C>T XP_016885416.1:n.-49C>T
XM_017029928.1:c.-49C>T XP_016885417.1:n.-49C>T
XM_017029929.1:c.-49C>T XP_016885418.1:n.-49C>T
XM_017029930.1:c.-49C>T XP_016885419.1:n.-49C>T
XM_017029931.1:c.-49C>T XP_016885420.1:n.-49C>T