Canonical Allele Identifier: CA391381915

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141782-T-C
• COSMIC: COSM1608217 ; COSM4781400
• MyVariant Identifiers: chr15:g.28386928T>C (hg19) ; chr15:g.28141782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141782T>C , CM000677.2:g.28141782T>C	GRCh38
NC_000015.9:g.28386928T>C , CM000677.1:g.28386928T>C	GRCh37
NC_000015.8:g.26060523T>C	NCBI36
NG_016355.1:g.185368A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11765A>G MANE Select	ENSP00000261609.8:p.His3922Arg
ENST00000650509.1:c.3476A>G	ENSP00000496936.1:p.His1159Arg
ENST00000261609.11:c.11765A>G	ENSP00000261609.7:p.His3922Arg
ENST00000564519.1:n.280A>G
NM_004667.5:c.11765A>G	NP_004658.3:p.His3922Arg
XM_005268276.3:c.11651A>G	XP_005268333.1:p.His3884Arg
XM_005268277.3:c.11651A>G	XP_005268334.1:p.His3884Arg
XM_006720726.2:c.11750A>G	XP_006720789.1:p.His3917Arg
XM_006720727.2:c.11507A>G	XP_006720790.1:p.His3836Arg
XM_011522131.1:c.11282A>G	XP_011520433.1:p.His3761Arg
XM_011522132.1:c.9281A>G	XP_011520434.1:p.His3094Arg
XM_011522133.1:c.8510A>G	XP_011520435.1:p.His2837Arg
XM_011522134.1:c.5882A>G	XP_011520436.1:p.His1961Arg
XM_005268276.5:c.11651A>G	XP_005268333.1:p.His3884Arg
XM_006720726.3:c.11750A>G	XP_006720789.1:p.His3917Arg
XM_006720727.3:c.11507A>G	XP_006720790.1:p.His3836Arg
XM_017022695.1:c.11651A>G	XP_016878184.1:p.His3884Arg
XM_017022696.1:c.11651A>G	XP_016878185.1:p.His3884Arg
XM_017022697.1:c.4931A>G	XP_016878186.1:p.His1644Arg
XM_017022698.1:c.4931A>G	XP_016878187.1:p.His1644Arg
NM_004667.6:c.11765A>G MANE Select	NP_004658.3:p.His3922Arg