Canonical Allele Identifier: CA7440438

Gene: HERC2

Linked Data

• dbSNP Id: rs770062499
• ExAC: 15:28386732 A / G
• gnomAD v4: 15-28141586-A-G
• MyVariant Identifiers: chr15:g.28386732A>G (hg19) ; chr15:g.28141586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141586A>G , CM000677.2:g.28141586A>G	GRCh38
NC_000015.9:g.28386732A>G , CM000677.1:g.28386732A>G	GRCh37
NC_000015.8:g.26060327A>G	NCBI36
NG_016355.1:g.185564T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11861T>C MANE Select	ENSP00000261609.8:p.Ile3954Thr
ENST00000650509.1:c.3572T>C	ENSP00000496936.1:p.Ile1191Thr
ENST00000261609.11:c.11861T>C	ENSP00000261609.7:p.Ile3954Thr
NM_004667.5:c.11861T>C	NP_004658.3:p.Ile3954Thr
XM_005268276.3:c.11747T>C	XP_005268333.1:p.Ile3916Thr
XM_005268277.3:c.11747T>C	XP_005268334.1:p.Ile3916Thr
XM_006720726.2:c.11846T>C	XP_006720789.1:p.Ile3949Thr
XM_006720727.2:c.11603T>C	XP_006720790.1:p.Ile3868Thr
XM_011522131.1:c.11378T>C	XP_011520433.1:p.Ile3793Thr
XM_011522132.1:c.9377T>C	XP_011520434.1:p.Ile3126Thr
XM_011522133.1:c.8606T>C	XP_011520435.1:p.Ile2869Thr
XM_011522134.1:c.5978T>C	XP_011520436.1:p.Ile1993Thr
XM_005268276.5:c.11747T>C	XP_005268333.1:p.Ile3916Thr
XM_006720726.3:c.11846T>C	XP_006720789.1:p.Ile3949Thr
XM_006720727.3:c.11603T>C	XP_006720790.1:p.Ile3868Thr
XM_017022695.1:c.11747T>C	XP_016878184.1:p.Ile3916Thr
XM_017022696.1:c.11747T>C	XP_016878185.1:p.Ile3916Thr
XM_017022697.1:c.5027T>C	XP_016878186.1:p.Ile1676Thr
XM_017022698.1:c.5027T>C	XP_016878187.1:p.Ile1676Thr
NM_004667.6:c.11861T>C MANE Select	NP_004658.3:p.Ile3954Thr