Canonical Allele Identifier: CA7440430

Gene: HERC2

Linked Data

• dbSNP Id: rs765870704
• ExAC: 15:28386666 G / C
• gnomAD v2: 15-28386666-G-C
• gnomAD v4: 15-28141520-G-C
• MyVariant Identifiers: chr15:g.28386666G>C (hg19) ; chr15:g.28141520G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141520G>C , CM000677.2:g.28141520G>C	GRCh38
NC_000015.9:g.28386666G>C , CM000677.1:g.28386666G>C	GRCh37
NC_000015.8:g.26060261G>C	NCBI36
NG_016355.1:g.185630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11927C>G MANE Select	ENSP00000261609.8:p.Pro3976Arg
ENST00000650509.1:c.3638C>G	ENSP00000496936.1:p.Pro1213Arg
ENST00000261609.11:c.11927C>G	ENSP00000261609.7:p.Pro3976Arg
NM_004667.5:c.11927C>G	NP_004658.3:p.Pro3976Arg
XM_005268276.3:c.11813C>G	XP_005268333.1:p.Pro3938Arg
XM_005268277.3:c.11813C>G	XP_005268334.1:p.Pro3938Arg
XM_006720726.2:c.11912C>G	XP_006720789.1:p.Pro3971Arg
XM_006720727.2:c.11669C>G	XP_006720790.1:p.Pro3890Arg
XM_011522131.1:c.11444C>G	XP_011520433.1:p.Pro3815Arg
XM_011522132.1:c.9443C>G	XP_011520434.1:p.Pro3148Arg
XM_011522133.1:c.8672C>G	XP_011520435.1:p.Pro2891Arg
XM_011522134.1:c.6044C>G	XP_011520436.1:p.Pro2015Arg
XM_005268276.5:c.11813C>G	XP_005268333.1:p.Pro3938Arg
XM_006720726.3:c.11912C>G	XP_006720789.1:p.Pro3971Arg
XM_006720727.3:c.11669C>G	XP_006720790.1:p.Pro3890Arg
XM_017022695.1:c.11813C>G	XP_016878184.1:p.Pro3938Arg
XM_017022696.1:c.11813C>G	XP_016878185.1:p.Pro3938Arg
XM_017022697.1:c.5093C>G	XP_016878186.1:p.Pro1698Arg
XM_017022698.1:c.5093C>G	XP_016878187.1:p.Pro1698Arg
NM_004667.6:c.11927C>G MANE Select	NP_004658.3:p.Pro3976Arg