Canonical Allele Identifier: CA391381563

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386732A>T (hg19) ; chr15:g.28141586A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141586A>T , CM000677.2:g.28141586A>T	GRCh38
NC_000015.9:g.28386732A>T , CM000677.1:g.28386732A>T	GRCh37
NC_000015.8:g.26060327A>T	NCBI36
NG_016355.1:g.185564T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11861T>A MANE Select	ENSP00000261609.8:p.Ile3954Asn
ENST00000650509.1:c.3572T>A	ENSP00000496936.1:p.Ile1191Asn
ENST00000261609.11:c.11861T>A	ENSP00000261609.7:p.Ile3954Asn
NM_004667.5:c.11861T>A	NP_004658.3:p.Ile3954Asn
XM_005268276.3:c.11747T>A	XP_005268333.1:p.Ile3916Asn
XM_005268277.3:c.11747T>A	XP_005268334.1:p.Ile3916Asn
XM_006720726.2:c.11846T>A	XP_006720789.1:p.Ile3949Asn
XM_006720727.2:c.11603T>A	XP_006720790.1:p.Ile3868Asn
XM_011522131.1:c.11378T>A	XP_011520433.1:p.Ile3793Asn
XM_011522132.1:c.9377T>A	XP_011520434.1:p.Ile3126Asn
XM_011522133.1:c.8606T>A	XP_011520435.1:p.Ile2869Asn
XM_011522134.1:c.5978T>A	XP_011520436.1:p.Ile1993Asn
XM_005268276.5:c.11747T>A	XP_005268333.1:p.Ile3916Asn
XM_006720726.3:c.11846T>A	XP_006720789.1:p.Ile3949Asn
XM_006720727.3:c.11603T>A	XP_006720790.1:p.Ile3868Asn
XM_017022695.1:c.11747T>A	XP_016878184.1:p.Ile3916Asn
XM_017022696.1:c.11747T>A	XP_016878185.1:p.Ile3916Asn
XM_017022697.1:c.5027T>A	XP_016878186.1:p.Ile1676Asn
XM_017022698.1:c.5027T>A	XP_016878187.1:p.Ile1676Asn
NM_004667.6:c.11861T>A MANE Select	NP_004658.3:p.Ile3954Asn