Canonical Allele Identifier: CA12314959

Gene: GCNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10621695T>C , CM000668.2:g.10621695T>C	GRCh38
NC_000006.11:g.10621928T>C , CM000668.1:g.10621928T>C	GRCh37
NC_000006.10:g.10729914T>C	NCBI36
NG_007469.3:g.134473T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_145649.5:c.1018+252T>C MANE Select	NP_663624.1:n.1018+252T>C
ENST00000495262.7:c.1018+252T>C MANE Select	ENSP00000419411.2:n.1018+252T>C
NM_001491.3:c.1012+252T>C MANE Plus Clinical	NP_001482.1:n.1012+252T>C
ENST00000316170.9:c.1012+252T>C MANE Plus Clinical	ENSP00000314844.3:n.1012+252T>C
NM_001374747.1:c.1018+252T>C	NP_001361676.1:n.1018+252T>C
NM_001491.2:c.1012+252T>C	NP_001482.1:n.1012+252T>C
NM_145649.4:c.1018+252T>C	NP_663624.1:n.1018+252T>C
NM_145655.3:c.1018+252T>C	NP_663630.2:n.1018+252T>C
NM_145655.4:c.1018+252T>C	NP_663630.2:n.1018+252T>C
ENST00000265012.4:c.1018+252T>C	ENSP00000265012.4:n.1018+252T>C
ENST00000265012.5:c.1018+252T>C	ENSP00000265012.4:n.1018+252T>C
ENST00000316170.7:c.1012+252T>C	ENSP00000314844.3:n.1012+252T>C
ENST00000379597.7:c.1018+252T>C	ENSP00000368917.3:n.1018+252T>C
ENST00000397423.6:n.577+252T>C
ENST00000397423.7:n.577+252T>C
ENST00000410107.5:c.160+252T>C	ENSP00000386321.1:n.160+252T>C
ENST00000475577.5:n.347+252T>C
ENST00000485764.1:n.560+252T>C
ENST00000489225.5:n.376+252T>C
ENST00000489819.5:n.268+252T>C
ENST00000495262.5:c.1018+252T>C	ENSP00000419411.1:n.1018+252T>C
XM_005248999.2:c.787+252T>C	XP_005249056.1:n.787+252T>C
XM_006715052.2:c.1018+252T>C	XP_006715115.1:n.1018+252T>C
XM_006715052.3:c.1018+252T>C	XP_006715115.1:n.1018+252T>C
XM_011514467.1:c.787+252T>C	XP_011512769.1:n.787+252T>C