Canonical Allele Identifier: CA391380855

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386588G>T (hg19) ; chr15:g.28141442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141442G>T , CM000677.2:g.28141442G>T	GRCh38
NC_000015.9:g.28386588G>T , CM000677.1:g.28386588G>T	GRCh37
NC_000015.8:g.26060183G>T	NCBI36
NG_016355.1:g.185708C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.12005C>A MANE Select	ENSP00000261609.8:p.Ala4002Asp
ENST00000650509.1:c.3716C>A	ENSP00000496936.1:p.Ala1239Asp
ENST00000261609.11:c.12005C>A	ENSP00000261609.7:p.Ala4002Asp
NM_004667.5:c.12005C>A	NP_004658.3:p.Ala4002Asp
XM_005268276.3:c.11891C>A	XP_005268333.1:p.Ala3964Asp
XM_005268277.3:c.11891C>A	XP_005268334.1:p.Ala3964Asp
XM_006720726.2:c.11990C>A	XP_006720789.1:p.Ala3997Asp
XM_006720727.2:c.11747C>A	XP_006720790.1:p.Ala3916Asp
XM_011522131.1:c.11522C>A	XP_011520433.1:p.Ala3841Asp
XM_011522132.1:c.9521C>A	XP_011520434.1:p.Ala3174Asp
XM_011522133.1:c.8750C>A	XP_011520435.1:p.Ala2917Asp
XM_011522134.1:c.6122C>A	XP_011520436.1:p.Ala2041Asp
XM_005268276.5:c.11891C>A	XP_005268333.1:p.Ala3964Asp
XM_006720726.3:c.11990C>A	XP_006720789.1:p.Ala3997Asp
XM_006720727.3:c.11747C>A	XP_006720790.1:p.Ala3916Asp
XM_017022695.1:c.11891C>A	XP_016878184.1:p.Ala3964Asp
XM_017022696.1:c.11891C>A	XP_016878185.1:p.Ala3964Asp
XM_017022697.1:c.5171C>A	XP_016878186.1:p.Ala1724Asp
XM_017022698.1:c.5171C>A	XP_016878187.1:p.Ala1724Asp
NM_004667.6:c.12005C>A MANE Select	NP_004658.3:p.Ala4002Asp