Canonical Allele Identifier: CA565380639

Gene: GCNT2

Linked Data

• dbSNP Id: rs1400905925
• gnomAD v2: 6-10530024-T-TA
• gnomAD v4: 6-10529791-T-TA
• MyVariant Identifiers: chr6:g.10530024_10530025insA (hg19) ; chr6:g.10529791_10529792insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529792dup , CM000668.2:g.10529792dup	GRCh38
NC_000006.11:g.10530025dup , CM000668.1:g.10530025dup	GRCh37
NC_000006.10:g.10638011dup	NCBI36
NG_007469.3:g.42570dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+951dup
ENST00000495262.7:c.881dup MANE Select	ENSP00000419411.2:p.Tyr294Ter
ENST00000379597.7:c.881dup	ENSP00000368917.3:p.Tyr294Ter
ENST00000397423.6:n.484+951dup
ENST00000410107.5:c.67+20634dup	ENSP00000386321.1:n.67+20634dup
ENST00000474518.1:n.508+951dup
ENST00000474983.5:n.1458dup
ENST00000475577.5:n.254+2132dup
ENST00000483204.1:n.1457dup
ENST00000489225.5:n.283+36861dup
ENST00000489819.5:n.175+8198dup
ENST00000495262.5:c.881dup	ENSP00000419411.1:p.Tyr294Ter
NM_145649.4:c.881dup	NP_663624.1:p.Tyr294Ter
XM_005248999.2:c.650dup	XP_005249056.1:p.Tyr217Ter
XM_006715052.2:c.881dup	XP_006715115.1:p.Tyr294Ter
XM_006715053.2:c.881dup	XP_006715116.1:p.Tyr294Ter
XM_011514465.1:c.881dup	XP_011512767.1:p.Tyr294Ter
XM_011514467.1:c.650dup	XP_011512769.1:p.Tyr217Ter
XM_011514468.1:c.881dup	XP_011512770.1:p.Tyr294Ter
XR_926136.1:n.1432dup
XM_006715052.3:c.881dup	XP_006715115.1:p.Tyr294Ter
XM_011514468.3:c.881dup	XP_011512770.1:p.Tyr294Ter
XM_017010732.2:c.881dup	XP_016866221.1:p.Tyr294Ter
XR_002956275.1:n.1432dup
XR_926136.2:n.1430dup
NM_001374747.1:c.881dup	NP_001361676.1:p.Tyr294Ter
NM_145649.5:c.881dup MANE Select	NP_663624.1:p.Tyr294Ter