Canonical Allele Identifier: CA391381947

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386943A>T (hg19) ; chr15:g.28141797A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141797A>T , CM000677.2:g.28141797A>T	GRCh38
NC_000015.9:g.28386943A>T , CM000677.1:g.28386943A>T	GRCh37
NC_000015.8:g.26060538A>T	NCBI36
NG_016355.1:g.185353T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11750T>A MANE Select	ENSP00000261609.8:p.Val3917Asp
ENST00000650509.1:c.3461T>A	ENSP00000496936.1:p.Val1154Asp
ENST00000261609.11:c.11750T>A	ENSP00000261609.7:p.Val3917Asp
ENST00000564519.1:n.265T>A
NM_004667.5:c.11750T>A	NP_004658.3:p.Val3917Asp
XM_005268276.3:c.11636T>A	XP_005268333.1:p.Val3879Asp
XM_005268277.3:c.11636T>A	XP_005268334.1:p.Val3879Asp
XM_006720726.2:c.11735T>A	XP_006720789.1:p.Val3912Asp
XM_006720727.2:c.11492T>A	XP_006720790.1:p.Val3831Asp
XM_011522131.1:c.11267T>A	XP_011520433.1:p.Val3756Asp
XM_011522132.1:c.9266T>A	XP_011520434.1:p.Val3089Asp
XM_011522133.1:c.8495T>A	XP_011520435.1:p.Val2832Asp
XM_011522134.1:c.5867T>A	XP_011520436.1:p.Val1956Asp
XM_005268276.5:c.11636T>A	XP_005268333.1:p.Val3879Asp
XM_006720726.3:c.11735T>A	XP_006720789.1:p.Val3912Asp
XM_006720727.3:c.11492T>A	XP_006720790.1:p.Val3831Asp
XM_017022695.1:c.11636T>A	XP_016878184.1:p.Val3879Asp
XM_017022696.1:c.11636T>A	XP_016878185.1:p.Val3879Asp
XM_017022697.1:c.4916T>A	XP_016878186.1:p.Val1639Asp
XM_017022698.1:c.4916T>A	XP_016878187.1:p.Val1639Asp
NM_004667.6:c.11750T>A MANE Select	NP_004658.3:p.Val3917Asp