Canonical Allele Identifier: CA362709605

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529795-G-T
• MyVariant Identifiers: chr6:g.10530028G>T (hg19) ; chr6:g.10529795G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529795G>T , CM000668.2:g.10529795G>T	GRCh38
NC_000006.11:g.10530028G>T , CM000668.1:g.10530028G>T	GRCh37
NC_000006.10:g.10638014G>T	NCBI36
NG_007469.3:g.42573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+954G>T
ENST00000495262.7:c.884G>T MANE Select	ENSP00000419411.2:p.Ser295Ile
ENST00000379597.7:c.884G>T	ENSP00000368917.3:p.Ser295Ile
ENST00000397423.6:n.484+954G>T
ENST00000410107.5:c.67+20637G>T	ENSP00000386321.1:n.67+20637G>T
ENST00000474518.1:n.508+954G>T
ENST00000474983.5:n.1461G>T
ENST00000475577.5:n.254+2135G>T
ENST00000483204.1:n.1460G>T
ENST00000489225.5:n.283+36864G>T
ENST00000489819.5:n.175+8201G>T
ENST00000495262.5:c.884G>T	ENSP00000419411.1:p.Ser295Ile
NM_145649.4:c.884G>T	NP_663624.1:p.Ser295Ile
XM_005248999.2:c.653G>T	XP_005249056.1:p.Ser218Ile
XM_006715052.2:c.884G>T	XP_006715115.1:p.Ser295Ile
XM_006715053.2:c.884G>T	XP_006715116.1:p.Ser295Ile
XM_011514465.1:c.884G>T	XP_011512767.1:p.Ser295Ile
XM_011514467.1:c.653G>T	XP_011512769.1:p.Ser218Ile
XM_011514468.1:c.884G>T	XP_011512770.1:p.Ser295Ile
XR_926136.1:n.1435G>T
XM_006715052.3:c.884G>T	XP_006715115.1:p.Ser295Ile
XM_011514468.3:c.884G>T	XP_011512770.1:p.Ser295Ile
XM_017010732.2:c.884G>T	XP_016866221.1:p.Ser295Ile
XR_002956275.1:n.1435G>T
XR_926136.2:n.1433G>T
NM_001374747.1:c.884G>T	NP_001361676.1:p.Ser295Ile
NM_145649.5:c.884G>T MANE Select	NP_663624.1:p.Ser295Ile