Canonical Allele Identifier: CA325968764
Gene: GYG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2859522G>C , CM000685.2:g.2859522G>C GRCh38
NC_000023.10:g.2777563G>C , CM000685.1:g.2777563G>C GRCh37
NC_000023.9:g.2787563G>C NCBI36
NG_021257.1:g.35701G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001079855.2:c.615-321G>C MANE Select NP_001073324.1:n.615-321G>C
ENST00000398806.8:c.615-321G>C MANE Select ENSP00000381786.3:n.615-321G>C
NM_001079855.1:c.615-321G>C NP_001073324.1:n.615-321G>C
NM_001184702.1:c.615-321G>C NP_001171631.1:n.615-321G>C
NM_001184702.2:c.615-321G>C NP_001171631.1:n.615-321G>C
NM_001184703.1:c.708-321G>C NP_001171632.1:n.708-321G>C
NM_001184703.2:c.708-321G>C NP_001171632.1:n.708-321G>C
NM_001184704.1:c.150-321G>C NP_001171633.1:n.150-321G>C
NM_001184704.2:c.150-321G>C NP_001171633.1:n.150-321G>C
NM_003918.2:c.708-321G>C NP_003909.2:n.708-321G>C
NM_003918.3:c.708-321G>C NP_003909.2:n.708-321G>C
ENST00000353656.10:c.708-321G>C ENSP00000487294.1:n.708-321G>C
ENST00000381157.2:c.163-321G>C
ENST00000381161.5:n.663-321G>C
ENST00000381163.7:c.708-321G>C ENSP00000370555.3:n.708-321G>C
ENST00000398806.7:c.615-321G>C ENSP00000381786.3:n.615-321G>C
ENST00000453106.1:n.386-321G>C
ENST00000639373.1:c.708-321G>C ENSP00000491962.1:n.708-321G>C
XM_006724521.2:c.708-321G>C XP_006724584.1:n.708-321G>C
XM_011545600.1:c.615-321G>C XP_011543902.1:n.615-321G>C
XM_011545600.2:c.615-321G>C XP_011543902.1:n.615-321G>C
XM_011545601.1:c.702-321G>C XP_011543903.1:n.702-321G>C
XM_011545602.1:c.150-321G>C XP_011543904.1:n.150-321G>C
XM_017029927.1:c.708-321G>C XP_016885416.1:n.708-321G>C
XM_017029928.1:c.708-321G>C XP_016885417.1:n.708-321G>C
XM_017029929.1:c.708-321G>C XP_016885418.1:n.708-321G>C
XM_017029930.1:c.615-321G>C XP_016885419.1:n.615-321G>C
XM_017029931.1:c.615-321G>C XP_016885420.1:n.615-321G>C