Canonical Allele Identifier: CA391381926

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141786-T-G
• MyVariant Identifiers: chr15:g.28386932T>G (hg19) ; chr15:g.28141786T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141786T>G , CM000677.2:g.28141786T>G	GRCh38
NC_000015.9:g.28386932T>G , CM000677.1:g.28386932T>G	GRCh37
NC_000015.8:g.26060527T>G	NCBI36
NG_016355.1:g.185364A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11761A>C MANE Select	ENSP00000261609.8:p.Ser3921Arg
ENST00000650509.1:c.3472A>C	ENSP00000496936.1:p.Ser1158Arg
ENST00000261609.11:c.11761A>C	ENSP00000261609.7:p.Ser3921Arg
ENST00000564519.1:n.276A>C
NM_004667.5:c.11761A>C	NP_004658.3:p.Ser3921Arg
XM_005268276.3:c.11647A>C	XP_005268333.1:p.Ser3883Arg
XM_005268277.3:c.11647A>C	XP_005268334.1:p.Ser3883Arg
XM_006720726.2:c.11746A>C	XP_006720789.1:p.Ser3916Arg
XM_006720727.2:c.11503A>C	XP_006720790.1:p.Ser3835Arg
XM_011522131.1:c.11278A>C	XP_011520433.1:p.Ser3760Arg
XM_011522132.1:c.9277A>C	XP_011520434.1:p.Ser3093Arg
XM_011522133.1:c.8506A>C	XP_011520435.1:p.Ser2836Arg
XM_011522134.1:c.5878A>C	XP_011520436.1:p.Ser1960Arg
XM_005268276.5:c.11647A>C	XP_005268333.1:p.Ser3883Arg
XM_006720726.3:c.11746A>C	XP_006720789.1:p.Ser3916Arg
XM_006720727.3:c.11503A>C	XP_006720790.1:p.Ser3835Arg
XM_017022695.1:c.11647A>C	XP_016878184.1:p.Ser3883Arg
XM_017022696.1:c.11647A>C	XP_016878185.1:p.Ser3883Arg
XM_017022697.1:c.4927A>C	XP_016878186.1:p.Ser1643Arg
XM_017022698.1:c.4927A>C	XP_016878187.1:p.Ser1643Arg
NM_004667.6:c.11761A>C MANE Select	NP_004658.3:p.Ser3921Arg