Canonical Allele Identifier: CA391381954

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386946T>A (hg19) ; chr15:g.28141800T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141800T>A , CM000677.2:g.28141800T>A	GRCh38
NC_000015.9:g.28386946T>A , CM000677.1:g.28386946T>A	GRCh37
NC_000015.8:g.26060541T>A	NCBI36
NG_016355.1:g.185350A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11747A>T MANE Select	ENSP00000261609.8:p.Asp3916Val
ENST00000650509.1:c.3458A>T	ENSP00000496936.1:p.Asp1153Val
ENST00000261609.11:c.11747A>T	ENSP00000261609.7:p.Asp3916Val
ENST00000564519.1:n.262A>T
NM_004667.5:c.11747A>T	NP_004658.3:p.Asp3916Val
XM_005268276.3:c.11633A>T	XP_005268333.1:p.Asp3878Val
XM_005268277.3:c.11633A>T	XP_005268334.1:p.Asp3878Val
XM_006720726.2:c.11732A>T	XP_006720789.1:p.Asp3911Val
XM_006720727.2:c.11489A>T	XP_006720790.1:p.Asp3830Val
XM_011522131.1:c.11264A>T	XP_011520433.1:p.Asp3755Val
XM_011522132.1:c.9263A>T	XP_011520434.1:p.Asp3088Val
XM_011522133.1:c.8492A>T	XP_011520435.1:p.Asp2831Val
XM_011522134.1:c.5864A>T	XP_011520436.1:p.Asp1955Val
XM_005268276.5:c.11633A>T	XP_005268333.1:p.Asp3878Val
XM_006720726.3:c.11732A>T	XP_006720789.1:p.Asp3911Val
XM_006720727.3:c.11489A>T	XP_006720790.1:p.Asp3830Val
XM_017022695.1:c.11633A>T	XP_016878184.1:p.Asp3878Val
XM_017022696.1:c.11633A>T	XP_016878185.1:p.Asp3878Val
XM_017022697.1:c.4913A>T	XP_016878186.1:p.Asp1638Val
XM_017022698.1:c.4913A>T	XP_016878187.1:p.Asp1638Val
NM_004667.6:c.11747A>T MANE Select	NP_004658.3:p.Asp3916Val