Canonical Allele Identifier: CA391381195

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386646C>T (hg19) ; chr15:g.28141500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141500C>T , CM000677.2:g.28141500C>T	GRCh38
NC_000015.9:g.28386646C>T , CM000677.1:g.28386646C>T	GRCh37
NC_000015.8:g.26060241C>T	NCBI36
NG_016355.1:g.185650G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11947G>A MANE Select	ENSP00000261609.8:p.Ala3983Thr
ENST00000650509.1:c.3658G>A	ENSP00000496936.1:p.Ala1220Thr
ENST00000261609.11:c.11947G>A	ENSP00000261609.7:p.Ala3983Thr
NM_004667.5:c.11947G>A	NP_004658.3:p.Ala3983Thr
XM_005268276.3:c.11833G>A	XP_005268333.1:p.Ala3945Thr
XM_005268277.3:c.11833G>A	XP_005268334.1:p.Ala3945Thr
XM_006720726.2:c.11932G>A	XP_006720789.1:p.Ala3978Thr
XM_006720727.2:c.11689G>A	XP_006720790.1:p.Ala3897Thr
XM_011522131.1:c.11464G>A	XP_011520433.1:p.Ala3822Thr
XM_011522132.1:c.9463G>A	XP_011520434.1:p.Ala3155Thr
XM_011522133.1:c.8692G>A	XP_011520435.1:p.Ala2898Thr
XM_011522134.1:c.6064G>A	XP_011520436.1:p.Ala2022Thr
XM_005268276.5:c.11833G>A	XP_005268333.1:p.Ala3945Thr
XM_006720726.3:c.11932G>A	XP_006720789.1:p.Ala3978Thr
XM_006720727.3:c.11689G>A	XP_006720790.1:p.Ala3897Thr
XM_017022695.1:c.11833G>A	XP_016878184.1:p.Ala3945Thr
XM_017022696.1:c.11833G>A	XP_016878185.1:p.Ala3945Thr
XM_017022697.1:c.5113G>A	XP_016878186.1:p.Ala1705Thr
XM_017022698.1:c.5113G>A	XP_016878187.1:p.Ala1705Thr
NM_004667.6:c.11947G>A MANE Select	NP_004658.3:p.Ala3983Thr