Canonical Allele Identifier: CA616718316

Gene: HERC2

Linked Data

• dbSNP Id: rs1420669116
• gnomAD v2: 15-28453258-T-A
• gnomAD v3: 15-28208112-T-A
• gnomAD v4: 15-28208112-T-A
• MyVariant Identifiers: chr15:g.28453258T>A (hg19) ; chr15:g.28208112T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28208112T>A , CM000677.2:g.28208112T>A	GRCh38
NC_000015.9:g.28453258T>A , CM000677.1:g.28453258T>A	GRCh37
NC_000015.8:g.26126853T>A	NCBI36
NG_016355.1:g.119038A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.7070-1730A>T MANE Select	ENSP00000261609.8:n.7070-1730A>T
ENST00000261609.11:c.7070-1730A>T	ENSP00000261609.7:n.7070-1730A>T
NM_004667.5:c.7070-1730A>T	NP_004658.3:n.7070-1730A>T
XM_005268276.3:c.6956-1730A>T	XP_005268333.1:n.6956-1730A>T
XM_005268277.3:c.6956-1730A>T	XP_005268334.1:n.6956-1730A>T
XM_006720726.2:c.7055-1730A>T	XP_006720789.1:n.7055-1730A>T
XM_006720727.2:c.6812-1730A>T	XP_006720790.1:n.6812-1730A>T
XM_011522131.1:c.6587-1730A>T	XP_011520433.1:n.6587-1730A>T
XM_011522132.1:c.4586-1730A>T	XP_011520434.1:n.4586-1730A>T
XM_011522133.1:c.3815-1730A>T	XP_011520435.1:n.3815-1730A>T
XM_011522134.1:c.1187-1730A>T	XP_011520436.1:n.1187-1730A>T
XM_011522135.1:c.7070-1730A>T	XP_011520437.1:n.7070-1730A>T
XM_011522136.1:c.7070-1730A>T	XP_011520438.1:n.7070-1730A>T
XM_011522137.1:c.7070-1730A>T	XP_011520439.1:n.7070-1730A>T
XR_931930.1:n.7199-1730A>T
XR_931931.1:n.7199-1730A>T
XM_005268276.5:c.6956-1730A>T	XP_005268333.1:n.6956-1730A>T
XM_006720726.3:c.7055-1730A>T	XP_006720789.1:n.7055-1730A>T
XM_006720727.3:c.6812-1730A>T	XP_006720790.1:n.6812-1730A>T
XM_017022695.1:c.6956-1730A>T	XP_016878184.1:n.6956-1730A>T
XM_017022696.1:c.6956-1730A>T	XP_016878185.1:n.6956-1730A>T
XM_017022697.1:c.236-1730A>T	XP_016878186.1:n.236-1730A>T
XM_017022698.1:c.236-1730A>T	XP_016878187.1:n.236-1730A>T
XR_001751410.1:n.7200-1730A>T
XR_931930.2:n.7200-1730A>T
NM_004667.6:c.7070-1730A>T MANE Select	NP_004658.3:n.7070-1730A>T