Canonical Allele Identifier: CA391381278

Gene: HERC2

Linked Data

• COSMIC: COSM4249882 ; COSM4461113
• MyVariant Identifiers: chr15:g.28386661G>A (hg19) ; chr15:g.28141515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141515G>A , CM000677.2:g.28141515G>A	GRCh38
NC_000015.9:g.28386661G>A , CM000677.1:g.28386661G>A	GRCh37
NC_000015.8:g.26060256G>A	NCBI36
NG_016355.1:g.185635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11932C>T MANE Select	ENSP00000261609.8:p.Pro3978Ser
ENST00000650509.1:c.3643C>T	ENSP00000496936.1:p.Pro1215Ser
ENST00000261609.11:c.11932C>T	ENSP00000261609.7:p.Pro3978Ser
NM_004667.5:c.11932C>T	NP_004658.3:p.Pro3978Ser
XM_005268276.3:c.11818C>T	XP_005268333.1:p.Pro3940Ser
XM_005268277.3:c.11818C>T	XP_005268334.1:p.Pro3940Ser
XM_006720726.2:c.11917C>T	XP_006720789.1:p.Pro3973Ser
XM_006720727.2:c.11674C>T	XP_006720790.1:p.Pro3892Ser
XM_011522131.1:c.11449C>T	XP_011520433.1:p.Pro3817Ser
XM_011522132.1:c.9448C>T	XP_011520434.1:p.Pro3150Ser
XM_011522133.1:c.8677C>T	XP_011520435.1:p.Pro2893Ser
XM_011522134.1:c.6049C>T	XP_011520436.1:p.Pro2017Ser
XM_005268276.5:c.11818C>T	XP_005268333.1:p.Pro3940Ser
XM_006720726.3:c.11917C>T	XP_006720789.1:p.Pro3973Ser
XM_006720727.3:c.11674C>T	XP_006720790.1:p.Pro3892Ser
XM_017022695.1:c.11818C>T	XP_016878184.1:p.Pro3940Ser
XM_017022696.1:c.11818C>T	XP_016878185.1:p.Pro3940Ser
XM_017022697.1:c.5098C>T	XP_016878186.1:p.Pro1700Ser
XM_017022698.1:c.5098C>T	XP_016878187.1:p.Pro1700Ser
NM_004667.6:c.11932C>T MANE Select	NP_004658.3:p.Pro3978Ser