Canonical Allele Identifier: CA565380700

Gene: GCNT2

Linked Data

• dbSNP Id: rs1561778986
• gnomAD v2: 6-10530121-TACTA-T
• gnomAD v4: 6-10529888-TACTA-T
• MyVariant Identifiers: chr6:g.10530122_10530125del (hg19) ; chr6:g.10529889_10529892del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529890_10529893del , CM000668.2:g.10529890_10529893del	GRCh38
NC_000006.11:g.10530123_10530126del , CM000668.1:g.10530123_10530126del	GRCh37
NC_000006.10:g.10638109_10638112del	NCBI36
NG_007469.3:g.42668_42671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+1049_484+1052del
ENST00000495262.7:c.925+54_925+57del MANE Select	ENSP00000419411.2:n.925+54_925+57del
ENST00000379597.7:c.925+54_925+57del	ENSP00000368917.3:n.925+54_925+57del
ENST00000397423.6:n.484+1049_484+1052del
ENST00000410107.5:c.67+20732_67+20735del	ENSP00000386321.1:n.67+20732_67+20735del
ENST00000461400.1:n.25+54_25+57del
ENST00000474518.1:n.508+1049_508+1052del
ENST00000474983.5:n.1556_1559del
ENST00000475577.5:n.254+2230_254+2233del
ENST00000483204.1:n.1555_1558del
ENST00000485764.1:n.40+54_40+57del
ENST00000489225.5:n.283+36959_283+36962del
ENST00000489819.5:n.175+8296_175+8299del
ENST00000495262.5:c.925+54_925+57del	ENSP00000419411.1:n.925+54_925+57del
NM_145649.4:c.925+54_925+57del	NP_663624.1:n.925+54_925+57del
XM_005248999.2:c.694+54_694+57del	XP_005249056.1:n.694+54_694+57del
XM_006715052.2:c.925+54_925+57del	XP_006715115.1:n.925+54_925+57del
XM_006715053.2:c.925+54_925+57del	XP_006715116.1:n.925+54_925+57del
XM_011514465.1:c.925+54_925+57del	XP_011512767.1:n.925+54_925+57del
XM_011514467.1:c.694+54_694+57del	XP_011512769.1:n.694+54_694+57del
XM_011514468.1:c.925+54_925+57del	XP_011512770.1:n.925+54_925+57del
XR_926136.1:n.1476+54_1476+57del
XM_006715052.3:c.925+54_925+57del	XP_006715115.1:n.925+54_925+57del
XM_011514468.3:c.925+54_925+57del	XP_011512770.1:n.925+54_925+57del
XM_017010732.2:c.925+54_925+57del	XP_016866221.1:n.925+54_925+57del
XR_002956275.1:n.1476+54_1476+57del
XR_926136.2:n.1474+54_1474+57del
NM_001374747.1:c.925+54_925+57del	NP_001361676.1:n.925+54_925+57del
NM_145649.5:c.925+54_925+57del MANE Select	NP_663624.1:n.925+54_925+57del