Canonical Allele Identifier: CA99379104

Gene: UGT2B17 UGT2B15

Linked Data

• dbSNP Id: rs1037180489
• gnomAD v2: 4-69425577-TC-T
• gnomAD v3: 4-68559859-TC-T
• gnomAD v4: 4-68559859-TC-T
• MyVariant Identifiers: chr4:g.69425578del (hg19) ; chr4:g.68559860del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.68559861del , CM000666.2:g.68559861del	GRCh38
NC_000004.11:g.69425579del , CM000666.1:g.69425579del	GRCh37
NC_000004.10:g.69108174del	NCBI36
NG_017033.1:g.13668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317746.3:c.1005+677del (UGT2B17) MANE Select	ENSP00000320401.2:n.1005+677del
ENST00000684088.1:c.255+677del (UGT2B17)	ENSP00000507374.1:n.255+677del
ENST00000317746.2:c.1005+677del (UGT2B17)	ENSP00000320401.2:n.1005+677del
ENST00000616841.4:c.1733-22334del (UGT2B15)	ENSP00000482004.1:n.1733-22334del
NM_001077.3:c.1005+677del (UGT2B17)	NP_001068.1:n.1005+677del
XM_024454205.1:c.1005+677del (UGT2B17)	XP_024309973.1:n.1005+677del
NM_001077.4:c.1005+677del (UGT2B17) MANE Select	NP_001068.1:n.1005+677del