Canonical Allele Identifier: CA391381835

Gene: HERC2

Linked Data

• dbSNP Id: rs1401408632
• gnomAD v2: 15-28386896-G-A
• gnomAD v4: 15-28141750-G-A
• MyVariant Identifiers: chr15:g.28386896G>A (hg19) ; chr15:g.28141750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141750G>A , CM000677.2:g.28141750G>A	GRCh38
NC_000015.9:g.28386896G>A , CM000677.1:g.28386896G>A	GRCh37
NC_000015.8:g.26060491G>A	NCBI36
NG_016355.1:g.185400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11797C>T MANE Select	ENSP00000261609.8:p.Leu3933Phe
ENST00000650509.1:c.3508C>T	ENSP00000496936.1:p.Leu1170Phe
ENST00000261609.11:c.11797C>T	ENSP00000261609.7:p.Leu3933Phe
ENST00000564519.1:n.312C>T
NM_004667.5:c.11797C>T	NP_004658.3:p.Leu3933Phe
XM_005268276.3:c.11683C>T	XP_005268333.1:p.Leu3895Phe
XM_005268277.3:c.11683C>T	XP_005268334.1:p.Leu3895Phe
XM_006720726.2:c.11782C>T	XP_006720789.1:p.Leu3928Phe
XM_006720727.2:c.11539C>T	XP_006720790.1:p.Leu3847Phe
XM_011522131.1:c.11314C>T	XP_011520433.1:p.Leu3772Phe
XM_011522132.1:c.9313C>T	XP_011520434.1:p.Leu3105Phe
XM_011522133.1:c.8542C>T	XP_011520435.1:p.Leu2848Phe
XM_011522134.1:c.5914C>T	XP_011520436.1:p.Leu1972Phe
XM_005268276.5:c.11683C>T	XP_005268333.1:p.Leu3895Phe
XM_006720726.3:c.11782C>T	XP_006720789.1:p.Leu3928Phe
XM_006720727.3:c.11539C>T	XP_006720790.1:p.Leu3847Phe
XM_017022695.1:c.11683C>T	XP_016878184.1:p.Leu3895Phe
XM_017022696.1:c.11683C>T	XP_016878185.1:p.Leu3895Phe
XM_017022697.1:c.4963C>T	XP_016878186.1:p.Leu1655Phe
XM_017022698.1:c.4963C>T	XP_016878187.1:p.Leu1655Phe
NM_004667.6:c.11797C>T MANE Select	NP_004658.3:p.Leu3933Phe