Canonical Allele Identifier: CA362708994

Gene: GCNT2

Linked Data

• dbSNP Id: rs1561778307
• gnomAD v2: 6-10529853-T-A
• MyVariant Identifiers: chr6:g.10529853T>A (hg19) ; chr6:g.10529853_10529886delinsATAAACCACAAAAATTCCTACGTGATTAAAACAA (hg19) ; chr6:g.10529620T>A (hg38) ; chr6:g.10529620_10529653delinsATAAACCACAAAAATTCCTACGTGATTAAAACAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529620T>A , CM000668.2:g.10529620T>A	GRCh38
NC_000006.11:g.10529853T>A , CM000668.1:g.10529853T>A	GRCh37
NC_000006.10:g.10637839T>A	NCBI36
NG_007469.3:g.42398T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+779T>A
ENST00000495262.7:c.709T>A MANE Select	ENSP00000419411.2:p.Leu237Ile
ENST00000379597.7:c.709T>A	ENSP00000368917.3:p.Leu237Ile
ENST00000397423.6:n.484+779T>A
ENST00000410107.5:c.67+20462T>A	ENSP00000386321.1:n.67+20462T>A
ENST00000474518.1:n.508+779T>A
ENST00000474983.5:n.1286T>A
ENST00000475577.5:n.254+1960T>A
ENST00000483204.1:n.1285T>A
ENST00000489225.5:n.283+36689T>A
ENST00000489819.5:n.175+8026T>A
ENST00000495262.5:c.709T>A	ENSP00000419411.1:p.Leu237Ile
NM_145649.4:c.709T>A	NP_663624.1:p.Leu237Ile
XM_005248999.2:c.478T>A	XP_005249056.1:p.Leu160Ile
XM_006715052.2:c.709T>A	XP_006715115.1:p.Leu237Ile
XM_006715053.2:c.709T>A	XP_006715116.1:p.Leu237Ile
XM_011514465.1:c.709T>A	XP_011512767.1:p.Leu237Ile
XM_011514467.1:c.478T>A	XP_011512769.1:p.Leu160Ile
XM_011514468.1:c.709T>A	XP_011512770.1:p.Leu237Ile
XR_926136.1:n.1260T>A
XM_006715052.3:c.709T>A	XP_006715115.1:p.Leu237Ile
XM_011514468.3:c.709T>A	XP_011512770.1:p.Leu237Ile
XM_017010732.2:c.709T>A	XP_016866221.1:p.Leu237Ile
XR_002956275.1:n.1260T>A
XR_926136.2:n.1258T>A
NM_001374747.1:c.709T>A	NP_001361676.1:p.Leu237Ile
NM_145649.5:c.709T>A MANE Select	NP_663624.1:p.Leu237Ile