Canonical Allele Identifier: CA10337091

Gene: GYG2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2855172C>T , CM000685.2:g.2855172C>T	GRCh38
NC_000023.10:g.2773213C>T , CM000685.1:g.2773213C>T	GRCh37
NC_000023.9:g.2783213C>T	NCBI36
NG_021257.1:g.31351C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001079855.2:c.487+17C>T MANE Select	NP_001073324.1:n.487+17C>T
ENST00000398806.8:c.487+17C>T MANE Select	ENSP00000381786.3:n.487+17C>T
NM_001079855.1:c.487+17C>T	NP_001073324.1:n.487+17C>T
NM_001184702.1:c.487+17C>T	NP_001171631.1:n.487+17C>T
NM_001184702.2:c.487+17C>T	NP_001171631.1:n.487+17C>T
NM_001184703.1:c.580+17C>T	NP_001171632.1:n.580+17C>T
NM_001184703.2:c.580+17C>T	NP_001171632.1:n.580+17C>T
NM_001184704.1:c.22+17C>T	NP_001171633.1:n.22+17C>T
NM_001184704.2:c.22+17C>T	NP_001171633.1:n.22+17C>T
NM_003918.2:c.580+17C>T	NP_003909.2:n.580+17C>T
NM_003918.3:c.580+17C>T	NP_003909.2:n.580+17C>T
ENST00000353656.10:c.580+17C>T	ENSP00000487294.1:n.580+17C>T
ENST00000381157.2:c.35+17C>T
ENST00000381161.5:n.535+17C>T
ENST00000381163.7:c.580+17C>T	ENSP00000370555.3:n.580+17C>T
ENST00000398806.7:c.487+17C>T	ENSP00000381786.3:n.487+17C>T
ENST00000453106.1:n.258+17C>T
ENST00000469234.6:n.440+17C>T
ENST00000639373.1:c.580+17C>T	ENSP00000491962.1:n.580+17C>T
XM_006724521.2:c.580+17C>T	XP_006724584.1:n.580+17C>T
XM_011545600.1:c.487+17C>T	XP_011543902.1:n.487+17C>T
XM_011545600.2:c.487+17C>T	XP_011543902.1:n.487+17C>T
XM_011545601.1:c.574+17C>T	XP_011543903.1:n.574+17C>T
XM_011545602.1:c.22+17C>T	XP_011543904.1:n.22+17C>T
XM_017029927.1:c.580+17C>T	XP_016885416.1:n.580+17C>T
XM_017029928.1:c.580+17C>T	XP_016885417.1:n.580+17C>T
XM_017029929.1:c.580+17C>T	XP_016885418.1:n.580+17C>T
XM_017029930.1:c.487+17C>T	XP_016885419.1:n.487+17C>T
XM_017029931.1:c.487+17C>T	XP_016885420.1:n.487+17C>T