Canonical Allele Identifier: CA391381994

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141815-T-G
• MyVariant Identifiers: chr15:g.28386961T>G (hg19) ; chr15:g.28141815T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141815T>G , CM000677.2:g.28141815T>G	GRCh38
NC_000015.9:g.28386961T>G , CM000677.1:g.28386961T>G	GRCh37
NC_000015.8:g.26060556T>G	NCBI36
NG_016355.1:g.185335A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11732A>C MANE Select	ENSP00000261609.8:p.Asp3911Ala
ENST00000650509.1:c.3443A>C	ENSP00000496936.1:p.Asp1148Ala
ENST00000261609.11:c.11732A>C	ENSP00000261609.7:p.Asp3911Ala
ENST00000564519.1:n.247A>C
NM_004667.5:c.11732A>C	NP_004658.3:p.Asp3911Ala
XM_005268276.3:c.11618A>C	XP_005268333.1:p.Asp3873Ala
XM_005268277.3:c.11618A>C	XP_005268334.1:p.Asp3873Ala
XM_006720726.2:c.11717A>C	XP_006720789.1:p.Asp3906Ala
XM_006720727.2:c.11474A>C	XP_006720790.1:p.Asp3825Ala
XM_011522131.1:c.11249A>C	XP_011520433.1:p.Asp3750Ala
XM_011522132.1:c.9248A>C	XP_011520434.1:p.Asp3083Ala
XM_011522133.1:c.8477A>C	XP_011520435.1:p.Asp2826Ala
XM_011522134.1:c.5849A>C	XP_011520436.1:p.Asp1950Ala
XM_005268276.5:c.11618A>C	XP_005268333.1:p.Asp3873Ala
XM_006720726.3:c.11717A>C	XP_006720789.1:p.Asp3906Ala
XM_006720727.3:c.11474A>C	XP_006720790.1:p.Asp3825Ala
XM_017022695.1:c.11618A>C	XP_016878184.1:p.Asp3873Ala
XM_017022696.1:c.11618A>C	XP_016878185.1:p.Asp3873Ala
XM_017022697.1:c.4898A>C	XP_016878186.1:p.Asp1633Ala
XM_017022698.1:c.4898A>C	XP_016878187.1:p.Asp1633Ala
NM_004667.6:c.11732A>C MANE Select	NP_004658.3:p.Asp3911Ala