Canonical Allele Identifier: CA267946100

Gene: HERC2

Linked Data

• dbSNP Id: rs751898740
• gnomAD v3: 15-28141537-G-A
• gnomAD v4: 15-28141537-G-A
• MyVariant Identifiers: chr15:g.28386683G>A (hg19) ; chr15:g.28141537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141537G>A , CM000677.2:g.28141537G>A	GRCh38
NC_000015.9:g.28386683G>A , CM000677.1:g.28386683G>A	GRCh37
NC_000015.8:g.26060278G>A	NCBI36
NG_016355.1:g.185613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11910C>T MANE Select	ENSP00000261609.8:p.Gly3970=
ENST00000650509.1:c.3621C>T	ENSP00000496936.1:p.Gly1207=
ENST00000261609.11:c.11910C>T	ENSP00000261609.7:p.Gly3970=
NM_004667.5:c.11910C>T	NP_004658.3:p.Gly3970=
XM_005268276.3:c.11796C>T	XP_005268333.1:p.Gly3932=
XM_005268277.3:c.11796C>T	XP_005268334.1:p.Gly3932=
XM_006720726.2:c.11895C>T	XP_006720789.1:p.Gly3965=
XM_006720727.2:c.11652C>T	XP_006720790.1:p.Gly3884=
XM_011522131.1:c.11427C>T	XP_011520433.1:p.Gly3809=
XM_011522132.1:c.9426C>T	XP_011520434.1:p.Gly3142=
XM_011522133.1:c.8655C>T	XP_011520435.1:p.Gly2885=
XM_011522134.1:c.6027C>T	XP_011520436.1:p.Gly2009=
XM_005268276.5:c.11796C>T	XP_005268333.1:p.Gly3932=
XM_006720726.3:c.11895C>T	XP_006720789.1:p.Gly3965=
XM_006720727.3:c.11652C>T	XP_006720790.1:p.Gly3884=
XM_017022695.1:c.11796C>T	XP_016878184.1:p.Gly3932=
XM_017022696.1:c.11796C>T	XP_016878185.1:p.Gly3932=
XM_017022697.1:c.5076C>T	XP_016878186.1:p.Gly1692=
XM_017022698.1:c.5076C>T	XP_016878187.1:p.Gly1692=
NM_004667.6:c.11910C>T MANE Select	NP_004658.3:p.Gly3970=