Canonical Allele Identifier: CA10621034

Gene: GCNT2

Linked Data

• ClinVar Variation Id: 354694
• ClinVar RCV Id: RCV000329871
• dbSNP Id: rs886060901
• gnomAD v3: 6-10555875-G-A
• gnomAD v4: 6-10555875-G-A
• MyVariant Identifiers: chr6:g.10556108G>A (hg19) ; chr6:g.10555875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10555875G>A , CM000668.2:g.10555875G>A	GRCh38
NC_000006.11:g.10556108G>A , CM000668.1:g.10556108G>A	GRCh37
NC_000006.10:g.10664094G>A	NCBI36
NG_007469.3:g.68653G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000316170.9:c.-549G>A MANE Plus Clinical	ENSP00000314844.3:n.-549G>A
ENST00000397423.7:n.484+27034G>A
ENST00000495262.7:c.925+26039G>A MANE Select	ENSP00000419411.2:n.925+26039G>A
ENST00000379597.7:c.925+26039G>A	ENSP00000368917.3:n.925+26039G>A
ENST00000397423.6:n.484+27034G>A
ENST00000410107.5:c.67+46717G>A	ENSP00000386321.1:n.67+46717G>A
ENST00000461400.1:n.25+26039G>A
ENST00000474518.1:n.508+27034G>A
ENST00000475577.5:n.254+28215G>A
ENST00000485764.1:n.40+26039G>A
ENST00000489225.5:n.283+62944G>A
ENST00000489819.5:n.175+34281G>A
ENST00000495262.5:c.925+26039G>A	ENSP00000419411.1:n.925+26039G>A
NM_001491.2:c.-549G>A	NP_001482.1:n.-549G>A
NM_145649.4:c.925+26039G>A	NP_663624.1:n.925+26039G>A
XM_005248999.2:c.694+26039G>A	XP_005249056.1:n.694+26039G>A
XM_006715052.2:c.925+26039G>A	XP_006715115.1:n.925+26039G>A
XM_006715053.2:c.967G>A	XP_006715116.1:p.Ala323Thr
XM_011514465.1:c.926-17255G>A	XP_011512767.1:n.926-17255G>A
XM_011514467.1:c.694+26039G>A	XP_011512769.1:n.694+26039G>A
XR_926136.1:n.1476+26039G>A
XM_006715052.3:c.925+26039G>A	XP_006715115.1:n.925+26039G>A
XR_002956275.1:n.1476+26039G>A
XR_926136.2:n.1474+26039G>A
NM_001374747.1:c.925+26039G>A	NP_001361676.1:n.925+26039G>A
NM_001491.3:c.-549G>A MANE Plus Clinical	NP_001482.1:n.-549G>A
NM_145649.5:c.925+26039G>A MANE Select	NP_663624.1:n.925+26039G>A