Canonical Allele Identifier: CA565380667

Gene: GCNT2

Linked Data

• dbSNP Id: rs1561778900
• gnomAD v2: 6-10530081-TCTTAA-T
• gnomAD v4: 6-10529848-TCTTAA-T
• MyVariant Identifiers: chr6:g.10530082_10530086del (hg19) ; chr6:g.10529849_10529853del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529852_10529856del , CM000668.2:g.10529852_10529856del	GRCh38
NC_000006.11:g.10530085_10530089del , CM000668.1:g.10530085_10530089del	GRCh37
NC_000006.10:g.10638071_10638075del	NCBI36
NG_007469.3:g.42630_42634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+1011_484+1015del
ENST00000495262.7:c.925+16_925+20del MANE Select	ENSP00000419411.2:n.925+16_925+20del
ENST00000379597.7:c.925+16_925+20del	ENSP00000368917.3:n.925+16_925+20del
ENST00000397423.6:n.484+1011_484+1015del
ENST00000410107.5:c.67+20694_67+20698del	ENSP00000386321.1:n.67+20694_67+20698del
ENST00000461400.1:n.25+16_25+20del
ENST00000474518.1:n.508+1011_508+1015del
ENST00000474983.5:n.1518_1522del
ENST00000475577.5:n.254+2192_254+2196del
ENST00000483204.1:n.1517_1521del
ENST00000485764.1:n.40+16_40+20del
ENST00000489225.5:n.283+36921_283+36925del
ENST00000489819.5:n.175+8258_175+8262del
ENST00000495262.5:c.925+16_925+20del	ENSP00000419411.1:n.925+16_925+20del
NM_145649.4:c.925+16_925+20del	NP_663624.1:n.925+16_925+20del
XM_005248999.2:c.694+16_694+20del	XP_005249056.1:n.694+16_694+20del
XM_006715052.2:c.925+16_925+20del	XP_006715115.1:n.925+16_925+20del
XM_006715053.2:c.925+16_925+20del	XP_006715116.1:n.925+16_925+20del
XM_011514465.1:c.925+16_925+20del	XP_011512767.1:n.925+16_925+20del
XM_011514467.1:c.694+16_694+20del	XP_011512769.1:n.694+16_694+20del
XM_011514468.1:c.925+16_925+20del	XP_011512770.1:n.925+16_925+20del
XR_926136.1:n.1476+16_1476+20del
XM_006715052.3:c.925+16_925+20del	XP_006715115.1:n.925+16_925+20del
XM_011514468.3:c.925+16_925+20del	XP_011512770.1:n.925+16_925+20del
XM_017010732.2:c.925+16_925+20del	XP_016866221.1:n.925+16_925+20del
XR_002956275.1:n.1476+16_1476+20del
XR_926136.2:n.1474+16_1474+20del
NM_001374747.1:c.925+16_925+20del	NP_001361676.1:n.925+16_925+20del
NM_145649.5:c.925+16_925+20del MANE Select	NP_663624.1:n.925+16_925+20del