Canonical Allele Identifier: CA7440481

Gene: HERC2

Linked Data

• dbSNP Id: rs201122066
• ExAC: 15:28386976 C / T
• gnomAD v2: 15-28386976-C-T
• gnomAD v3: 15-28141830-C-T
• gnomAD v4: 15-28141830-C-T
• MyVariant Identifiers: chr15:g.28386976C>T (hg19) ; chr15:g.28141830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141830C>T , CM000677.2:g.28141830C>T	GRCh38
NC_000015.9:g.28386976C>T , CM000677.1:g.28386976C>T	GRCh37
NC_000015.8:g.26060571C>T	NCBI36
NG_016355.1:g.185320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11717G>A MANE Select	ENSP00000261609.8:p.Arg3906His
ENST00000650509.1:c.3428G>A	ENSP00000496936.1:p.Arg1143His
ENST00000261609.11:c.11717G>A	ENSP00000261609.7:p.Arg3906His
ENST00000564519.1:n.232G>A
NM_004667.5:c.11717G>A	NP_004658.3:p.Arg3906His
XM_005268276.3:c.11603G>A	XP_005268333.1:p.Arg3868His
XM_005268277.3:c.11603G>A	XP_005268334.1:p.Arg3868His
XM_006720726.2:c.11702G>A	XP_006720789.1:p.Arg3901His
XM_006720727.2:c.11459G>A	XP_006720790.1:p.Arg3820His
XM_011522131.1:c.11234G>A	XP_011520433.1:p.Arg3745His
XM_011522132.1:c.9233G>A	XP_011520434.1:p.Arg3078His
XM_011522133.1:c.8462G>A	XP_011520435.1:p.Arg2821His
XM_011522134.1:c.5834G>A	XP_011520436.1:p.Arg1945His
XM_005268276.5:c.11603G>A	XP_005268333.1:p.Arg3868His
XM_006720726.3:c.11702G>A	XP_006720789.1:p.Arg3901His
XM_006720727.3:c.11459G>A	XP_006720790.1:p.Arg3820His
XM_017022695.1:c.11603G>A	XP_016878184.1:p.Arg3868His
XM_017022696.1:c.11603G>A	XP_016878185.1:p.Arg3868His
XM_017022697.1:c.4883G>A	XP_016878186.1:p.Arg1628His
XM_017022698.1:c.4883G>A	XP_016878187.1:p.Arg1628His
NM_004667.6:c.11717G>A MANE Select	NP_004658.3:p.Arg3906His