Canonical Allele Identifier: CA391380929

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386601A>T (hg19) ; chr15:g.28141455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141455A>T , CM000677.2:g.28141455A>T	GRCh38
NC_000015.9:g.28386601A>T , CM000677.1:g.28386601A>T	GRCh37
NC_000015.8:g.26060196A>T	NCBI36
NG_016355.1:g.185695T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11992T>A MANE Select	ENSP00000261609.8:p.Phe3998Ile
ENST00000650509.1:c.3703T>A	ENSP00000496936.1:p.Phe1235Ile
ENST00000261609.11:c.11992T>A	ENSP00000261609.7:p.Phe3998Ile
NM_004667.5:c.11992T>A	NP_004658.3:p.Phe3998Ile
XM_005268276.3:c.11878T>A	XP_005268333.1:p.Phe3960Ile
XM_005268277.3:c.11878T>A	XP_005268334.1:p.Phe3960Ile
XM_006720726.2:c.11977T>A	XP_006720789.1:p.Phe3993Ile
XM_006720727.2:c.11734T>A	XP_006720790.1:p.Phe3912Ile
XM_011522131.1:c.11509T>A	XP_011520433.1:p.Phe3837Ile
XM_011522132.1:c.9508T>A	XP_011520434.1:p.Phe3170Ile
XM_011522133.1:c.8737T>A	XP_011520435.1:p.Phe2913Ile
XM_011522134.1:c.6109T>A	XP_011520436.1:p.Phe2037Ile
XM_005268276.5:c.11878T>A	XP_005268333.1:p.Phe3960Ile
XM_006720726.3:c.11977T>A	XP_006720789.1:p.Phe3993Ile
XM_006720727.3:c.11734T>A	XP_006720790.1:p.Phe3912Ile
XM_017022695.1:c.11878T>A	XP_016878184.1:p.Phe3960Ile
XM_017022696.1:c.11878T>A	XP_016878185.1:p.Phe3960Ile
XM_017022697.1:c.5158T>A	XP_016878186.1:p.Phe1720Ile
XM_017022698.1:c.5158T>A	XP_016878187.1:p.Phe1720Ile
NM_004667.6:c.11992T>A MANE Select	NP_004658.3:p.Phe3998Ile