Canonical Allele Identifier: CA7440420

Gene: HERC2

Linked Data

• dbSNP Id: rs745983405
• ExAC: 15:28386596 A / T
• gnomAD v2: 15-28386596-A-T
• gnomAD v4: 15-28141450-A-T
• MyVariant Identifiers: chr15:g.28386596A>T (hg19) ; chr15:g.28141450A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141450A>T , CM000677.2:g.28141450A>T	GRCh38
NC_000015.9:g.28386596A>T , CM000677.1:g.28386596A>T	GRCh37
NC_000015.8:g.26060191A>T	NCBI36
NG_016355.1:g.185700T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11997T>A MANE Select	ENSP00000261609.8:p.Ala3999=
ENST00000650509.1:c.3708T>A	ENSP00000496936.1:p.Ala1236=
ENST00000261609.11:c.11997T>A	ENSP00000261609.7:p.Ala3999=
NM_004667.5:c.11997T>A	NP_004658.3:p.Ala3999=
XM_005268276.3:c.11883T>A	XP_005268333.1:p.Ala3961=
XM_005268277.3:c.11883T>A	XP_005268334.1:p.Ala3961=
XM_006720726.2:c.11982T>A	XP_006720789.1:p.Ala3994=
XM_006720727.2:c.11739T>A	XP_006720790.1:p.Ala3913=
XM_011522131.1:c.11514T>A	XP_011520433.1:p.Ala3838=
XM_011522132.1:c.9513T>A	XP_011520434.1:p.Ala3171=
XM_011522133.1:c.8742T>A	XP_011520435.1:p.Ala2914=
XM_011522134.1:c.6114T>A	XP_011520436.1:p.Ala2038=
XM_005268276.5:c.11883T>A	XP_005268333.1:p.Ala3961=
XM_006720726.3:c.11982T>A	XP_006720789.1:p.Ala3994=
XM_006720727.3:c.11739T>A	XP_006720790.1:p.Ala3913=
XM_017022695.1:c.11883T>A	XP_016878184.1:p.Ala3961=
XM_017022696.1:c.11883T>A	XP_016878185.1:p.Ala3961=
XM_017022697.1:c.5163T>A	XP_016878186.1:p.Ala1721=
XM_017022698.1:c.5163T>A	XP_016878187.1:p.Ala1721=
NM_004667.6:c.11997T>A MANE Select	NP_004658.3:p.Ala3999=