Canonical Allele Identifier: CA391381388

Gene: HERC2

Linked Data

• dbSNP Id: rs1284075305
• gnomAD v3: 15-28141544-A-G
• gnomAD v4: 15-28141544-A-G
• MyVariant Identifiers: chr15:g.28386690A>G (hg19) ; chr15:g.28141544A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141544A>G , CM000677.2:g.28141544A>G	GRCh38
NC_000015.9:g.28386690A>G , CM000677.1:g.28386690A>G	GRCh37
NC_000015.8:g.26060285A>G	NCBI36
NG_016355.1:g.185606T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11903T>C MANE Select	ENSP00000261609.8:p.Ile3968Thr
ENST00000650509.1:c.3614T>C	ENSP00000496936.1:p.Ile1205Thr
ENST00000261609.11:c.11903T>C	ENSP00000261609.7:p.Ile3968Thr
NM_004667.5:c.11903T>C	NP_004658.3:p.Ile3968Thr
XM_005268276.3:c.11789T>C	XP_005268333.1:p.Ile3930Thr
XM_005268277.3:c.11789T>C	XP_005268334.1:p.Ile3930Thr
XM_006720726.2:c.11888T>C	XP_006720789.1:p.Ile3963Thr
XM_006720727.2:c.11645T>C	XP_006720790.1:p.Ile3882Thr
XM_011522131.1:c.11420T>C	XP_011520433.1:p.Ile3807Thr
XM_011522132.1:c.9419T>C	XP_011520434.1:p.Ile3140Thr
XM_011522133.1:c.8648T>C	XP_011520435.1:p.Ile2883Thr
XM_011522134.1:c.6020T>C	XP_011520436.1:p.Ile2007Thr
XM_005268276.5:c.11789T>C	XP_005268333.1:p.Ile3930Thr
XM_006720726.3:c.11888T>C	XP_006720789.1:p.Ile3963Thr
XM_006720727.3:c.11645T>C	XP_006720790.1:p.Ile3882Thr
XM_017022695.1:c.11789T>C	XP_016878184.1:p.Ile3930Thr
XM_017022696.1:c.11789T>C	XP_016878185.1:p.Ile3930Thr
XM_017022697.1:c.5069T>C	XP_016878186.1:p.Ile1690Thr
XM_017022698.1:c.5069T>C	XP_016878187.1:p.Ile1690Thr
NM_004667.6:c.11903T>C MANE Select	NP_004658.3:p.Ile3968Thr