Canonical Allele Identifier: CA448546312

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529827-A-C
• MyVariant Identifiers: chr6:g.10530060A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529827A>C , CM000668.2:g.10529827A>C	GRCh38
NC_000006.11:g.10530060A>C , CM000668.1:g.10530060A>C	GRCh37
NC_000006.10:g.10638046A>C	NCBI36
NG_007469.3:g.42605A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+986A>C
ENST00000495262.7:c.916A>C MANE Select	ENSP00000419411.2:p.Arg306=
ENST00000379597.7:c.916A>C	ENSP00000368917.3:p.Arg306=
ENST00000397423.6:n.484+986A>C
ENST00000410107.5:c.67+20669A>C	ENSP00000386321.1:n.67+20669A>C
ENST00000461400.1:n.16A>C
ENST00000474518.1:n.508+986A>C
ENST00000474983.5:n.1493A>C
ENST00000475577.5:n.254+2167A>C
ENST00000483204.1:n.1492A>C
ENST00000485764.1:n.31A>C
ENST00000489225.5:n.283+36896A>C
ENST00000489819.5:n.175+8233A>C
ENST00000495262.5:c.916A>C	ENSP00000419411.1:p.Arg306=
NM_145649.4:c.916A>C	NP_663624.1:p.Arg306=
XM_005248999.2:c.685A>C	XP_005249056.1:p.Arg229=
XM_006715052.2:c.916A>C	XP_006715115.1:p.Arg306=
XM_006715053.2:c.916A>C	XP_006715116.1:p.Arg306=
XM_011514465.1:c.916A>C	XP_011512767.1:p.Arg306=
XM_011514467.1:c.685A>C	XP_011512769.1:p.Arg229=
XM_011514468.1:c.916A>C	XP_011512770.1:p.Arg306=
XR_926136.1:n.1467A>C
XM_006715052.3:c.916A>C	XP_006715115.1:p.Arg306=
XM_011514468.3:c.916A>C	XP_011512770.1:p.Arg306=
XM_017010732.2:c.916A>C	XP_016866221.1:p.Arg306=
XR_002956275.1:n.1467A>C
XR_926136.2:n.1465A>C
NM_001374747.1:c.916A>C	NP_001361676.1:p.Arg306=
NM_145649.5:c.916A>C MANE Select	NP_663624.1:p.Arg306=