Canonical Allele Identifier: CA10337251

Gene: GYG2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2875870C>A , CM000685.2:g.2875870C>A	GRCh38
NC_000023.10:g.2793911C>A , CM000685.1:g.2793911C>A	GRCh37
NC_000023.9:g.2803911C>A	NCBI36
NG_021257.1:g.52049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398806.8:c.1099C>A MANE Select	ENSP00000381786.3:p.Pro367Thr
ENST00000639373.1:c.1132-5182C>A	ENSP00000491962.1:n.1132-5182C>A
ENST00000353656.10:c.1132-5182C>A	ENSP00000487294.1:n.1132-5182C>A
ENST00000381157.2:c.647C>A
ENST00000381161.5:n.1087-5182C>A
ENST00000381163.7:c.1192C>A	ENSP00000370555.3:p.Pro398Thr
ENST00000398806.7:c.1099C>A	ENSP00000381786.3:p.Pro367Thr
ENST00000453106.1:n.870C>A
NM_001079855.1:c.1099C>A	NP_001073324.1:p.Pro367Thr
NM_001184702.1:c.1099C>A	NP_001171631.1:p.Pro367Thr
NM_001184703.1:c.1132-5182C>A	NP_001171632.1:n.1132-5182C>A
NM_001184704.1:c.574-5182C>A	NP_001171633.1:n.574-5182C>A
NM_003918.2:c.1192C>A	NP_003909.2:p.Pro398Thr
XM_006724521.2:c.1192C>A	XP_006724584.1:p.Pro398Thr
XM_011545600.1:c.1099C>A	XP_011543902.1:p.Pro367Thr
XM_011545601.1:c.1126-5182C>A	XP_011543903.1:n.1126-5182C>A
XM_011545602.1:c.634C>A	XP_011543904.1:p.Pro212Thr
XM_011545600.2:c.1099C>A	XP_011543902.1:p.Pro367Thr
XM_017029927.1:c.1192C>A	XP_016885416.1:p.Pro398Thr
XM_017029928.1:c.1192C>A	XP_016885417.1:p.Pro398Thr
XM_017029929.1:c.1192C>A	XP_016885418.1:p.Pro398Thr
XM_017029930.1:c.1039-5182C>A	XP_016885419.1:n.1039-5182C>A
XM_017029931.1:c.1039-5182C>A	XP_016885420.1:n.1039-5182C>A
NM_001079855.2:c.1099C>A MANE Select	NP_001073324.1:p.Pro367Thr
NM_001184702.2:c.1099C>A	NP_001171631.1:p.Pro367Thr
NM_001184703.2:c.1132-5182C>A	NP_001171632.1:n.1132-5182C>A
NM_001184704.2:c.574-5182C>A	NP_001171633.1:n.574-5182C>A
NM_003918.3:c.1192C>A	NP_003909.2:p.Pro398Thr