Canonical Allele Identifier: CA267946126

Gene: HERC2

Linked Data

• dbSNP Id: rs200699030
• COSMIC: COSM317456 ; COSM5658737
• MyVariant Identifiers: chr15:g.28386727C>A (hg19) ; chr15:g.28141581C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141581C>A , CM000677.2:g.28141581C>A	GRCh38
NC_000015.9:g.28386727C>A , CM000677.1:g.28386727C>A	GRCh37
NC_000015.8:g.26060322C>A	NCBI36
NG_016355.1:g.185569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11866G>T MANE Select	ENSP00000261609.8:p.Gly3956Ter
ENST00000650509.1:c.3577G>T	ENSP00000496936.1:p.Gly1193Ter
ENST00000261609.11:c.11866G>T	ENSP00000261609.7:p.Gly3956Ter
NM_004667.5:c.11866G>T	NP_004658.3:p.Gly3956Ter
XM_005268276.3:c.11752G>T	XP_005268333.1:p.Gly3918Ter
XM_005268277.3:c.11752G>T	XP_005268334.1:p.Gly3918Ter
XM_006720726.2:c.11851G>T	XP_006720789.1:p.Gly3951Ter
XM_006720727.2:c.11608G>T	XP_006720790.1:p.Gly3870Ter
XM_011522131.1:c.11383G>T	XP_011520433.1:p.Gly3795Ter
XM_011522132.1:c.9382G>T	XP_011520434.1:p.Gly3128Ter
XM_011522133.1:c.8611G>T	XP_011520435.1:p.Gly2871Ter
XM_011522134.1:c.5983G>T	XP_011520436.1:p.Gly1995Ter
XM_005268276.5:c.11752G>T	XP_005268333.1:p.Gly3918Ter
XM_006720726.3:c.11851G>T	XP_006720789.1:p.Gly3951Ter
XM_006720727.3:c.11608G>T	XP_006720790.1:p.Gly3870Ter
XM_017022695.1:c.11752G>T	XP_016878184.1:p.Gly3918Ter
XM_017022696.1:c.11752G>T	XP_016878185.1:p.Gly3918Ter
XM_017022697.1:c.5032G>T	XP_016878186.1:p.Gly1678Ter
XM_017022698.1:c.5032G>T	XP_016878187.1:p.Gly1678Ter
NM_004667.6:c.11866G>T MANE Select	NP_004658.3:p.Gly3956Ter