Canonical Allele Identifier: CA7441503

Gene: HERC2

Linked Data

• ClinVar Variation Id: 452636
• ClinVar RCV Id: RCV000520647 ; RCV002289713 ; RCV002528277 ; RCV003962454
• dbSNP Id: rs146558015
• ExAC: 15:28437216 C / G
• gnomAD v2: 15-28437216-C-G
• gnomAD v3: 15-28192070-C-G
• gnomAD v4: 15-28192070-C-G
• MyVariant Identifiers: chr15:g.28437216C>G (hg19) ; chr15:g.28192070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28192070C>G , CM000677.2:g.28192070C>G	GRCh38
NC_000015.9:g.28437216C>G , CM000677.1:g.28437216C>G	GRCh37
NC_000015.8:g.26110811C>G	NCBI36
NG_016355.1:g.135080G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.8342G>C MANE Select	ENSP00000261609.8:p.Ser2781Thr
ENST00000650509.1:c.53G>C	ENSP00000496936.1:p.Ser18Thr
ENST00000261609.11:c.8342G>C	ENSP00000261609.7:p.Ser2781Thr
ENST00000567869.1:n.2452G>C
NM_004667.5:c.8342G>C	NP_004658.3:p.Ser2781Thr
XM_005268276.3:c.8228G>C	XP_005268333.1:p.Ser2743Thr
XM_005268277.3:c.8228G>C	XP_005268334.1:p.Ser2743Thr
XM_006720726.2:c.8327G>C	XP_006720789.1:p.Ser2776Thr
XM_006720727.2:c.8084G>C	XP_006720790.1:p.Ser2695Thr
XM_011522131.1:c.7859G>C	XP_011520433.1:p.Ser2620Thr
XM_011522132.1:c.5858G>C	XP_011520434.1:p.Ser1953Thr
XM_011522133.1:c.5087G>C	XP_011520435.1:p.Ser1696Thr
XM_011522134.1:c.2459G>C	XP_011520436.1:p.Ser820Thr
XR_931930.1:n.8471G>C
XR_931931.1:n.8362G>C
XM_005268276.5:c.8228G>C	XP_005268333.1:p.Ser2743Thr
XM_006720726.3:c.8327G>C	XP_006720789.1:p.Ser2776Thr
XM_006720727.3:c.8084G>C	XP_006720790.1:p.Ser2695Thr
XM_017022695.1:c.8228G>C	XP_016878184.1:p.Ser2743Thr
XM_017022696.1:c.8228G>C	XP_016878185.1:p.Ser2743Thr
XM_017022697.1:c.1508G>C	XP_016878186.1:p.Ser503Thr
XM_017022698.1:c.1508G>C	XP_016878187.1:p.Ser503Thr
XR_001751410.1:n.8363G>C
XR_931930.2:n.8472G>C
NM_004667.6:c.8342G>C MANE Select	NP_004658.3:p.Ser2781Thr