Canonical Allele Identifier: CA489234658

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141456-G-T
• MyVariant Identifiers: chr15:g.28386602G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141456G>T , CM000677.2:g.28141456G>T	GRCh38
NC_000015.9:g.28386602G>T , CM000677.1:g.28386602G>T	GRCh37
NC_000015.8:g.26060197G>T	NCBI36
NG_016355.1:g.185694C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11991C>A MANE Select	ENSP00000261609.8:p.Leu3997=
ENST00000650509.1:c.3702C>A	ENSP00000496936.1:p.Leu1234=
ENST00000261609.11:c.11991C>A	ENSP00000261609.7:p.Leu3997=
NM_004667.5:c.11991C>A	NP_004658.3:p.Leu3997=
XM_005268276.3:c.11877C>A	XP_005268333.1:p.Leu3959=
XM_005268277.3:c.11877C>A	XP_005268334.1:p.Leu3959=
XM_006720726.2:c.11976C>A	XP_006720789.1:p.Leu3992=
XM_006720727.2:c.11733C>A	XP_006720790.1:p.Leu3911=
XM_011522131.1:c.11508C>A	XP_011520433.1:p.Leu3836=
XM_011522132.1:c.9507C>A	XP_011520434.1:p.Leu3169=
XM_011522133.1:c.8736C>A	XP_011520435.1:p.Leu2912=
XM_011522134.1:c.6108C>A	XP_011520436.1:p.Leu2036=
XM_005268276.5:c.11877C>A	XP_005268333.1:p.Leu3959=
XM_006720726.3:c.11976C>A	XP_006720789.1:p.Leu3992=
XM_006720727.3:c.11733C>A	XP_006720790.1:p.Leu3911=
XM_017022695.1:c.11877C>A	XP_016878184.1:p.Leu3959=
XM_017022696.1:c.11877C>A	XP_016878185.1:p.Leu3959=
XM_017022697.1:c.5157C>A	XP_016878186.1:p.Leu1719=
XM_017022698.1:c.5157C>A	XP_016878187.1:p.Leu1719=
NM_004667.6:c.11991C>A MANE Select	NP_004658.3:p.Leu3997=