Canonical Allele Identifier: CA325957239

Gene: GYG2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2843417C>T , CM000685.2:g.2843417C>T	GRCh38
NC_000023.10:g.2761458C>T , CM000685.1:g.2761458C>T	GRCh37
NC_000023.9:g.2771458C>T	NCBI36
NG_021257.1:g.19596C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001079855.2:c.149+63C>T MANE Select	NP_001073324.1:n.149+63C>T
ENST00000398806.8:c.149+63C>T MANE Select	ENSP00000381786.3:n.149+63C>T
NM_001079855.1:c.149+63C>T	NP_001073324.1:n.149+63C>T
NM_001184702.1:c.149+63C>T	NP_001171631.1:n.149+63C>T
NM_001184702.2:c.149+63C>T	NP_001171631.1:n.149+63C>T
NM_001184703.1:c.242+63C>T	NP_001171632.1:n.242+63C>T
NM_001184703.2:c.242+63C>T	NP_001171632.1:n.242+63C>T
NM_001184704.1:c.-316-10563C>T	NP_001171633.1:n.-316-10563C>T
NM_001184704.2:c.-316-10563C>T	NP_001171633.1:n.-316-10563C>T
NM_003918.2:c.242+63C>T	NP_003909.2:n.242+63C>T
NM_003918.3:c.242+63C>T	NP_003909.2:n.242+63C>T
ENST00000353656.10:c.242+63C>T	ENSP00000487294.1:n.242+63C>T
ENST00000381161.5:n.198-10563C>T
ENST00000381163.7:c.242+63C>T	ENSP00000370555.3:n.242+63C>T
ENST00000398806.7:c.149+63C>T	ENSP00000381786.3:n.149+63C>T
ENST00000469234.6:n.277+63C>T
ENST00000520904.3:c.149+63C>T	ENSP00000430764.1:n.149+63C>T
ENST00000639373.1:c.242+63C>T	ENSP00000491962.1:n.242+63C>T
XM_006724521.2:c.242+63C>T	XP_006724584.1:n.242+63C>T
XM_011545600.1:c.149+63C>T	XP_011543902.1:n.149+63C>T
XM_011545600.2:c.149+63C>T	XP_011543902.1:n.149+63C>T
XM_011545601.1:c.236+63C>T	XP_011543903.1:n.236+63C>T
XM_011545602.1:c.-316-10563C>T	XP_011543904.1:n.-316-10563C>T
XM_017029927.1:c.242+63C>T	XP_016885416.1:n.242+63C>T
XM_017029928.1:c.242+63C>T	XP_016885417.1:n.242+63C>T
XM_017029929.1:c.242+63C>T	XP_016885418.1:n.242+63C>T
XM_017029930.1:c.149+63C>T	XP_016885419.1:n.149+63C>T
XM_017029931.1:c.149+63C>T	XP_016885420.1:n.149+63C>T