Canonical Allele Identifier: CA391382029

Gene: HERC2

Linked Data

• dbSNP Id: rs1469340516
• gnomAD v2: 15-28386979-A-C
• MyVariant Identifiers: chr15:g.28386979A>C (hg19) ; chr15:g.28141833A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141833A>C , CM000677.2:g.28141833A>C	GRCh38
NC_000015.9:g.28386979A>C , CM000677.1:g.28386979A>C	GRCh37
NC_000015.8:g.26060574A>C	NCBI36
NG_016355.1:g.185317T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11714T>G MANE Select	ENSP00000261609.8:p.Ile3905Ser
ENST00000650509.1:c.3425T>G	ENSP00000496936.1:p.Ile1142Ser
ENST00000261609.11:c.11714T>G	ENSP00000261609.7:p.Ile3905Ser
ENST00000564519.1:n.229T>G
NM_004667.5:c.11714T>G	NP_004658.3:p.Ile3905Ser
XM_005268276.3:c.11600T>G	XP_005268333.1:p.Ile3867Ser
XM_005268277.3:c.11600T>G	XP_005268334.1:p.Ile3867Ser
XM_006720726.2:c.11699T>G	XP_006720789.1:p.Ile3900Ser
XM_006720727.2:c.11456T>G	XP_006720790.1:p.Ile3819Ser
XM_011522131.1:c.11231T>G	XP_011520433.1:p.Ile3744Ser
XM_011522132.1:c.9230T>G	XP_011520434.1:p.Ile3077Ser
XM_011522133.1:c.8459T>G	XP_011520435.1:p.Ile2820Ser
XM_011522134.1:c.5831T>G	XP_011520436.1:p.Ile1944Ser
XM_005268276.5:c.11600T>G	XP_005268333.1:p.Ile3867Ser
XM_006720726.3:c.11699T>G	XP_006720789.1:p.Ile3900Ser
XM_006720727.3:c.11456T>G	XP_006720790.1:p.Ile3819Ser
XM_017022695.1:c.11600T>G	XP_016878184.1:p.Ile3867Ser
XM_017022696.1:c.11600T>G	XP_016878185.1:p.Ile3867Ser
XM_017022697.1:c.4880T>G	XP_016878186.1:p.Ile1627Ser
XM_017022698.1:c.4880T>G	XP_016878187.1:p.Ile1627Ser
NM_004667.6:c.11714T>G MANE Select	NP_004658.3:p.Ile3905Ser