Canonical Allele Identifier: CA391381849

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141756-C-A
• MyVariant Identifiers: chr15:g.28386902C>A (hg19) ; chr15:g.28141756C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141756C>A , CM000677.2:g.28141756C>A	GRCh38
NC_000015.9:g.28386902C>A , CM000677.1:g.28386902C>A	GRCh37
NC_000015.8:g.26060497C>A	NCBI36
NG_016355.1:g.185394G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11791G>T MANE Select	ENSP00000261609.8:p.Glu3931Ter
ENST00000650509.1:c.3502G>T	ENSP00000496936.1:p.Glu1168Ter
ENST00000261609.11:c.11791G>T	ENSP00000261609.7:p.Glu3931Ter
ENST00000564519.1:n.306G>T
NM_004667.5:c.11791G>T	NP_004658.3:p.Glu3931Ter
XM_005268276.3:c.11677G>T	XP_005268333.1:p.Glu3893Ter
XM_005268277.3:c.11677G>T	XP_005268334.1:p.Glu3893Ter
XM_006720726.2:c.11776G>T	XP_006720789.1:p.Glu3926Ter
XM_006720727.2:c.11533G>T	XP_006720790.1:p.Glu3845Ter
XM_011522131.1:c.11308G>T	XP_011520433.1:p.Glu3770Ter
XM_011522132.1:c.9307G>T	XP_011520434.1:p.Glu3103Ter
XM_011522133.1:c.8536G>T	XP_011520435.1:p.Glu2846Ter
XM_011522134.1:c.5908G>T	XP_011520436.1:p.Glu1970Ter
XM_005268276.5:c.11677G>T	XP_005268333.1:p.Glu3893Ter
XM_006720726.3:c.11776G>T	XP_006720789.1:p.Glu3926Ter
XM_006720727.3:c.11533G>T	XP_006720790.1:p.Glu3845Ter
XM_017022695.1:c.11677G>T	XP_016878184.1:p.Glu3893Ter
XM_017022696.1:c.11677G>T	XP_016878185.1:p.Glu3893Ter
XM_017022697.1:c.4957G>T	XP_016878186.1:p.Glu1653Ter
XM_017022698.1:c.4957G>T	XP_016878187.1:p.Glu1653Ter
NM_004667.6:c.11791G>T MANE Select	NP_004658.3:p.Glu3931Ter