Canonical Allele Identifier: CA362709075

Gene: GCNT2

Linked Data

• dbSNP Id: rs1452458941
• gnomAD v2: 6-10529890-A-C
• gnomAD v4: 6-10529657-A-C
• MyVariant Identifiers: chr6:g.10529890A>C (hg19) ; chr6:g.10529657A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529657A>C , CM000668.2:g.10529657A>C	GRCh38
NC_000006.11:g.10529890A>C , CM000668.1:g.10529890A>C	GRCh37
NC_000006.10:g.10637876A>C	NCBI36
NG_007469.3:g.42435A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+816A>C
ENST00000495262.7:c.746A>C MANE Select	ENSP00000419411.2:p.Lys249Thr
ENST00000379597.7:c.746A>C	ENSP00000368917.3:p.Lys249Thr
ENST00000397423.6:n.484+816A>C
ENST00000410107.5:c.67+20499A>C	ENSP00000386321.1:n.67+20499A>C
ENST00000474518.1:n.508+816A>C
ENST00000474983.5:n.1323A>C
ENST00000475577.5:n.254+1997A>C
ENST00000483204.1:n.1322A>C
ENST00000489225.5:n.283+36726A>C
ENST00000489819.5:n.175+8063A>C
ENST00000495262.5:c.746A>C	ENSP00000419411.1:p.Lys249Thr
NM_145649.4:c.746A>C	NP_663624.1:p.Lys249Thr
XM_005248999.2:c.515A>C	XP_005249056.1:p.Lys172Thr
XM_006715052.2:c.746A>C	XP_006715115.1:p.Lys249Thr
XM_006715053.2:c.746A>C	XP_006715116.1:p.Lys249Thr
XM_011514465.1:c.746A>C	XP_011512767.1:p.Lys249Thr
XM_011514467.1:c.515A>C	XP_011512769.1:p.Lys172Thr
XM_011514468.1:c.746A>C	XP_011512770.1:p.Lys249Thr
XR_926136.1:n.1297A>C
XM_006715052.3:c.746A>C	XP_006715115.1:p.Lys249Thr
XM_011514468.3:c.746A>C	XP_011512770.1:p.Lys249Thr
XM_017010732.2:c.746A>C	XP_016866221.1:p.Lys249Thr
XR_002956275.1:n.1297A>C
XR_926136.2:n.1295A>C
NM_001374747.1:c.746A>C	NP_001361676.1:p.Lys249Thr
NM_145649.5:c.746A>C MANE Select	NP_663624.1:p.Lys249Thr