Canonical Allele Identifier: CA391381161

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141494-G-A
• MyVariant Identifiers: chr15:g.28386640G>A (hg19) ; chr15:g.28141494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141494G>A , CM000677.2:g.28141494G>A	GRCh38
NC_000015.9:g.28386640G>A , CM000677.1:g.28386640G>A	GRCh37
NC_000015.8:g.26060235G>A	NCBI36
NG_016355.1:g.185656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11953C>T MANE Select	ENSP00000261609.8:p.Leu3985Phe
ENST00000650509.1:c.3664C>T	ENSP00000496936.1:p.Leu1222Phe
ENST00000261609.11:c.11953C>T	ENSP00000261609.7:p.Leu3985Phe
NM_004667.5:c.11953C>T	NP_004658.3:p.Leu3985Phe
XM_005268276.3:c.11839C>T	XP_005268333.1:p.Leu3947Phe
XM_005268277.3:c.11839C>T	XP_005268334.1:p.Leu3947Phe
XM_006720726.2:c.11938C>T	XP_006720789.1:p.Leu3980Phe
XM_006720727.2:c.11695C>T	XP_006720790.1:p.Leu3899Phe
XM_011522131.1:c.11470C>T	XP_011520433.1:p.Leu3824Phe
XM_011522132.1:c.9469C>T	XP_011520434.1:p.Leu3157Phe
XM_011522133.1:c.8698C>T	XP_011520435.1:p.Leu2900Phe
XM_011522134.1:c.6070C>T	XP_011520436.1:p.Leu2024Phe
XM_005268276.5:c.11839C>T	XP_005268333.1:p.Leu3947Phe
XM_006720726.3:c.11938C>T	XP_006720789.1:p.Leu3980Phe
XM_006720727.3:c.11695C>T	XP_006720790.1:p.Leu3899Phe
XM_017022695.1:c.11839C>T	XP_016878184.1:p.Leu3947Phe
XM_017022696.1:c.11839C>T	XP_016878185.1:p.Leu3947Phe
XM_017022697.1:c.5119C>T	XP_016878186.1:p.Leu1707Phe
XM_017022698.1:c.5119C>T	XP_016878187.1:p.Leu1707Phe
NM_004667.6:c.11953C>T MANE Select	NP_004658.3:p.Leu3985Phe