Canonical Allele Identifier: CA391381145

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386636C>T (hg19) ; chr15:g.28141490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141490C>T , CM000677.2:g.28141490C>T	GRCh38
NC_000015.9:g.28386636C>T , CM000677.1:g.28386636C>T	GRCh37
NC_000015.8:g.26060231C>T	NCBI36
NG_016355.1:g.185660G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11957G>A MANE Select	ENSP00000261609.8:p.Arg3986Lys
ENST00000650509.1:c.3668G>A	ENSP00000496936.1:p.Arg1223Lys
ENST00000261609.11:c.11957G>A	ENSP00000261609.7:p.Arg3986Lys
NM_004667.5:c.11957G>A	NP_004658.3:p.Arg3986Lys
XM_005268276.3:c.11843G>A	XP_005268333.1:p.Arg3948Lys
XM_005268277.3:c.11843G>A	XP_005268334.1:p.Arg3948Lys
XM_006720726.2:c.11942G>A	XP_006720789.1:p.Arg3981Lys
XM_006720727.2:c.11699G>A	XP_006720790.1:p.Arg3900Lys
XM_011522131.1:c.11474G>A	XP_011520433.1:p.Arg3825Lys
XM_011522132.1:c.9473G>A	XP_011520434.1:p.Arg3158Lys
XM_011522133.1:c.8702G>A	XP_011520435.1:p.Arg2901Lys
XM_011522134.1:c.6074G>A	XP_011520436.1:p.Arg2025Lys
XM_005268276.5:c.11843G>A	XP_005268333.1:p.Arg3948Lys
XM_006720726.3:c.11942G>A	XP_006720789.1:p.Arg3981Lys
XM_006720727.3:c.11699G>A	XP_006720790.1:p.Arg3900Lys
XM_017022695.1:c.11843G>A	XP_016878184.1:p.Arg3948Lys
XM_017022696.1:c.11843G>A	XP_016878185.1:p.Arg3948Lys
XM_017022697.1:c.5123G>A	XP_016878186.1:p.Arg1708Lys
XM_017022698.1:c.5123G>A	XP_016878187.1:p.Arg1708Lys
NM_004667.6:c.11957G>A MANE Select	NP_004658.3:p.Arg3986Lys