Canonical Allele Identifier: CA7440416

Gene: HERC2

Linked Data

• dbSNP Id: rs778006530
• ExAC: 15:28386589 C / T
• gnomAD v2: 15-28386589-C-T
• gnomAD v4: 15-28141443-C-T
• MyVariant Identifiers: chr15:g.28386589C>T (hg19) ; chr15:g.28141443C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141443C>T , CM000677.2:g.28141443C>T	GRCh38
NC_000015.9:g.28386589C>T , CM000677.1:g.28386589C>T	GRCh37
NC_000015.8:g.26060184C>T	NCBI36
NG_016355.1:g.185707G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12004G>A MANE Select	ENSP00000261609.8:p.Ala4002Thr
ENST00000650509.1:c.3715G>A	ENSP00000496936.1:p.Ala1239Thr
ENST00000261609.11:c.12004G>A	ENSP00000261609.7:p.Ala4002Thr
NM_004667.5:c.12004G>A	NP_004658.3:p.Ala4002Thr
XM_005268276.3:c.11890G>A	XP_005268333.1:p.Ala3964Thr
XM_005268277.3:c.11890G>A	XP_005268334.1:p.Ala3964Thr
XM_006720726.2:c.11989G>A	XP_006720789.1:p.Ala3997Thr
XM_006720727.2:c.11746G>A	XP_006720790.1:p.Ala3916Thr
XM_011522131.1:c.11521G>A	XP_011520433.1:p.Ala3841Thr
XM_011522132.1:c.9520G>A	XP_011520434.1:p.Ala3174Thr
XM_011522133.1:c.8749G>A	XP_011520435.1:p.Ala2917Thr
XM_011522134.1:c.6121G>A	XP_011520436.1:p.Ala2041Thr
XM_005268276.5:c.11890G>A	XP_005268333.1:p.Ala3964Thr
XM_006720726.3:c.11989G>A	XP_006720789.1:p.Ala3997Thr
XM_006720727.3:c.11746G>A	XP_006720790.1:p.Ala3916Thr
XM_017022695.1:c.11890G>A	XP_016878184.1:p.Ala3964Thr
XM_017022696.1:c.11890G>A	XP_016878185.1:p.Ala3964Thr
XM_017022697.1:c.5170G>A	XP_016878186.1:p.Ala1724Thr
XM_017022698.1:c.5170G>A	XP_016878187.1:p.Ala1724Thr
NM_004667.6:c.12004G>A MANE Select	NP_004658.3:p.Ala4002Thr