Canonical Allele Identifier: CA7440415

Gene: HERC2

Linked Data

• dbSNP Id: rs758829268
• ExAC: 15:28386585 T / A
• gnomAD v2: 15-28386585-T-A
• gnomAD v4: 15-28141439-T-A
• MyVariant Identifiers: chr15:g.28386585T>A (hg19) ; chr15:g.28141439T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141439T>A , CM000677.2:g.28141439T>A	GRCh38
NC_000015.9:g.28386585T>A , CM000677.1:g.28386585T>A	GRCh37
NC_000015.8:g.26060180T>A	NCBI36
NG_016355.1:g.185711A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12008A>T MANE Select	ENSP00000261609.8:p.Asp4003Val
ENST00000650509.1:c.3719A>T	ENSP00000496936.1:p.Asp1240Val
ENST00000261609.11:c.12008A>T	ENSP00000261609.7:p.Asp4003Val
NM_004667.5:c.12008A>T	NP_004658.3:p.Asp4003Val
XM_005268276.3:c.11894A>T	XP_005268333.1:p.Asp3965Val
XM_005268277.3:c.11894A>T	XP_005268334.1:p.Asp3965Val
XM_006720726.2:c.11993A>T	XP_006720789.1:p.Asp3998Val
XM_006720727.2:c.11750A>T	XP_006720790.1:p.Asp3917Val
XM_011522131.1:c.11525A>T	XP_011520433.1:p.Asp3842Val
XM_011522132.1:c.9524A>T	XP_011520434.1:p.Asp3175Val
XM_011522133.1:c.8753A>T	XP_011520435.1:p.Asp2918Val
XM_011522134.1:c.6125A>T	XP_011520436.1:p.Asp2042Val
XM_005268276.5:c.11894A>T	XP_005268333.1:p.Asp3965Val
XM_006720726.3:c.11993A>T	XP_006720789.1:p.Asp3998Val
XM_006720727.3:c.11750A>T	XP_006720790.1:p.Asp3917Val
XM_017022695.1:c.11894A>T	XP_016878184.1:p.Asp3965Val
XM_017022696.1:c.11894A>T	XP_016878185.1:p.Asp3965Val
XM_017022697.1:c.5174A>T	XP_016878186.1:p.Asp1725Val
XM_017022698.1:c.5174A>T	XP_016878187.1:p.Asp1725Val
NM_004667.6:c.12008A>T MANE Select	NP_004658.3:p.Asp4003Val