Canonical Allele Identifier: CA391381527

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141577-C-A
• MyVariant Identifiers: chr15:g.28386723C>A (hg19) ; chr15:g.28141577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141577C>A , CM000677.2:g.28141577C>A	GRCh38
NC_000015.9:g.28386723C>A , CM000677.1:g.28386723C>A	GRCh37
NC_000015.8:g.26060318C>A	NCBI36
NG_016355.1:g.185573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11870G>T MANE Select	ENSP00000261609.8:p.Trp3957Leu
ENST00000650509.1:c.3581G>T	ENSP00000496936.1:p.Trp1194Leu
ENST00000261609.11:c.11870G>T	ENSP00000261609.7:p.Trp3957Leu
NM_004667.5:c.11870G>T	NP_004658.3:p.Trp3957Leu
XM_005268276.3:c.11756G>T	XP_005268333.1:p.Trp3919Leu
XM_005268277.3:c.11756G>T	XP_005268334.1:p.Trp3919Leu
XM_006720726.2:c.11855G>T	XP_006720789.1:p.Trp3952Leu
XM_006720727.2:c.11612G>T	XP_006720790.1:p.Trp3871Leu
XM_011522131.1:c.11387G>T	XP_011520433.1:p.Trp3796Leu
XM_011522132.1:c.9386G>T	XP_011520434.1:p.Trp3129Leu
XM_011522133.1:c.8615G>T	XP_011520435.1:p.Trp2872Leu
XM_011522134.1:c.5987G>T	XP_011520436.1:p.Trp1996Leu
XM_005268276.5:c.11756G>T	XP_005268333.1:p.Trp3919Leu
XM_006720726.3:c.11855G>T	XP_006720789.1:p.Trp3952Leu
XM_006720727.3:c.11612G>T	XP_006720790.1:p.Trp3871Leu
XM_017022695.1:c.11756G>T	XP_016878184.1:p.Trp3919Leu
XM_017022696.1:c.11756G>T	XP_016878185.1:p.Trp3919Leu
XM_017022697.1:c.5036G>T	XP_016878186.1:p.Trp1679Leu
XM_017022698.1:c.5036G>T	XP_016878187.1:p.Trp1679Leu
NM_004667.6:c.11870G>T MANE Select	NP_004658.3:p.Trp3957Leu