Canonical Allele Identifier: CA391381858

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141759-C-T
• MyVariant Identifiers: chr15:g.28386905C>T (hg19) ; chr15:g.28141759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141759C>T , CM000677.2:g.28141759C>T	GRCh38
NC_000015.9:g.28386905C>T , CM000677.1:g.28386905C>T	GRCh37
NC_000015.8:g.26060500C>T	NCBI36
NG_016355.1:g.185391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11788G>A MANE Select	ENSP00000261609.8:p.Asp3930Asn
ENST00000650509.1:c.3499G>A	ENSP00000496936.1:p.Asp1167Asn
ENST00000261609.11:c.11788G>A	ENSP00000261609.7:p.Asp3930Asn
ENST00000564519.1:n.303G>A
NM_004667.5:c.11788G>A	NP_004658.3:p.Asp3930Asn
XM_005268276.3:c.11674G>A	XP_005268333.1:p.Asp3892Asn
XM_005268277.3:c.11674G>A	XP_005268334.1:p.Asp3892Asn
XM_006720726.2:c.11773G>A	XP_006720789.1:p.Asp3925Asn
XM_006720727.2:c.11530G>A	XP_006720790.1:p.Asp3844Asn
XM_011522131.1:c.11305G>A	XP_011520433.1:p.Asp3769Asn
XM_011522132.1:c.9304G>A	XP_011520434.1:p.Asp3102Asn
XM_011522133.1:c.8533G>A	XP_011520435.1:p.Asp2845Asn
XM_011522134.1:c.5905G>A	XP_011520436.1:p.Asp1969Asn
XM_005268276.5:c.11674G>A	XP_005268333.1:p.Asp3892Asn
XM_006720726.3:c.11773G>A	XP_006720789.1:p.Asp3925Asn
XM_006720727.3:c.11530G>A	XP_006720790.1:p.Asp3844Asn
XM_017022695.1:c.11674G>A	XP_016878184.1:p.Asp3892Asn
XM_017022696.1:c.11674G>A	XP_016878185.1:p.Asp3892Asn
XM_017022697.1:c.4954G>A	XP_016878186.1:p.Asp1652Asn
XM_017022698.1:c.4954G>A	XP_016878187.1:p.Asp1652Asn
NM_004667.6:c.11788G>A MANE Select	NP_004658.3:p.Asp3930Asn