Canonical Allele Identifier: CA565487595

Gene: GCNT2

Linked Data

• dbSNP Id: rs1158093137
• gnomAD v2: 6-10529836-AC-A
• gnomAD v4: 6-10529603-AC-A
• MyVariant Identifiers: chr6:g.10529837del (hg19) ; chr6:g.10529604del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529604del , CM000668.2:g.10529604del	GRCh38
NC_000006.11:g.10529837del , CM000668.1:g.10529837del	GRCh37
NC_000006.10:g.10637823del	NCBI36
NG_007469.3:g.42382del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397423.7:n.484+763del
ENST00000495262.7:c.693del MANE Select	ENSP00000419411.2:p.Tyr231Ter
ENST00000379597.7:c.693del	ENSP00000368917.3:p.Tyr231Ter
ENST00000397423.6:n.484+763del
ENST00000410107.5:c.67+20446del	ENSP00000386321.1:n.67+20446del
ENST00000474518.1:n.508+763del
ENST00000474983.5:n.1270del
ENST00000475577.5:n.254+1944del
ENST00000483204.1:n.1269del
ENST00000489225.5:n.283+36673del
ENST00000489819.5:n.175+8010del
ENST00000495262.5:c.693del	ENSP00000419411.1:p.Tyr231Ter
NM_145649.4:c.693del	NP_663624.1:p.Tyr231Ter
XM_005248999.2:c.462del	XP_005249056.1:p.Tyr154Ter
XM_006715052.2:c.693del	XP_006715115.1:p.Tyr231Ter
XM_006715053.2:c.693del	XP_006715116.1:p.Tyr231Ter
XM_011514465.1:c.693del	XP_011512767.1:p.Tyr231Ter
XM_011514467.1:c.462del	XP_011512769.1:p.Tyr154Ter
XM_011514468.1:c.693del	XP_011512770.1:p.Tyr231Ter
XR_926136.1:n.1244del
XM_006715052.3:c.693del	XP_006715115.1:p.Tyr231Ter
XM_011514468.3:c.693del	XP_011512770.1:p.Tyr231Ter
XM_017010732.2:c.693del	XP_016866221.1:p.Tyr231Ter
XR_002956275.1:n.1244del
XR_926136.2:n.1242del
NM_001374747.1:c.693del	NP_001361676.1:p.Tyr231Ter
NM_145649.5:c.693del MANE Select	NP_663624.1:p.Tyr231Ter