Canonical Allele Identifier: CA816691416

Gene: GCNT2

Linked Data

• dbSNP Id: rs1361715323
• gnomAD v3: 6-10529682-CATG-C
• gnomAD v4: 6-10529682-CATG-C
• MyVariant Identifiers: chr6:g.10529916_10529918del (hg19) ; chr6:g.10529683_10529685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529683_10529685del , CM000668.2:g.10529683_10529685del	GRCh38
NC_000006.11:g.10529916_10529918del , CM000668.1:g.10529916_10529918del	GRCh37
NC_000006.10:g.10637902_10637904del	NCBI36
NG_007469.3:g.42461_42463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+842_484+844del
ENST00000495262.7:c.772_774del MANE Select	ENSP00000419411.2:p.Met258del
ENST00000379597.7:c.772_774del	ENSP00000368917.3:p.Met258del
ENST00000397423.6:n.484+842_484+844del
ENST00000410107.5:c.67+20525_67+20527del	ENSP00000386321.1:n.67+20525_67+20527del
ENST00000474518.1:n.508+842_508+844del
ENST00000474983.5:n.1349_1351del
ENST00000475577.5:n.254+2023_254+2025del
ENST00000483204.1:n.1348_1350del
ENST00000489225.5:n.283+36752_283+36754del
ENST00000489819.5:n.175+8089_175+8091del
ENST00000495262.5:c.772_774del	ENSP00000419411.1:p.Met258del
NM_145649.4:c.772_774del	NP_663624.1:p.Met258del
XM_005248999.2:c.541_543del	XP_005249056.1:p.Met181del
XM_006715052.2:c.772_774del	XP_006715115.1:p.Met258del
XM_006715053.2:c.772_774del	XP_006715116.1:p.Met258del
XM_011514465.1:c.772_774del	XP_011512767.1:p.Met258del
XM_011514467.1:c.541_543del	XP_011512769.1:p.Met181del
XM_011514468.1:c.772_774del	XP_011512770.1:p.Met258del
XR_926136.1:n.1323_1325del
XM_006715052.3:c.772_774del	XP_006715115.1:p.Met258del
XM_011514468.3:c.772_774del	XP_011512770.1:p.Met258del
XM_017010732.2:c.772_774del	XP_016866221.1:p.Met258del
XR_002956275.1:n.1323_1325del
XR_926136.2:n.1321_1323del
NM_001374747.1:c.772_774del	NP_001361676.1:p.Met258del
NM_145649.5:c.772_774del MANE Select	NP_663624.1:p.Met258del