Canonical Allele Identifier: CA391380793

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386578C>G (hg19) ; chr15:g.28141432C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141432C>G , CM000677.2:g.28141432C>G	GRCh38
NC_000015.9:g.28386578C>G , CM000677.1:g.28386578C>G	GRCh37
NC_000015.8:g.26060173C>G	NCBI36
NG_016355.1:g.185718G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12015G>C MANE Select	ENSP00000261609.8:p.Lys4005Asn
ENST00000650509.1:c.3726G>C	ENSP00000496936.1:p.Lys1242Asn
ENST00000261609.11:c.12015G>C	ENSP00000261609.7:p.Lys4005Asn
NM_004667.5:c.12015G>C	NP_004658.3:p.Lys4005Asn
XM_005268276.3:c.11901G>C	XP_005268333.1:p.Lys3967Asn
XM_005268277.3:c.11901G>C	XP_005268334.1:p.Lys3967Asn
XM_006720726.2:c.12000G>C	XP_006720789.1:p.Lys4000Asn
XM_006720727.2:c.11757G>C	XP_006720790.1:p.Lys3919Asn
XM_011522131.1:c.11532G>C	XP_011520433.1:p.Lys3844Asn
XM_011522132.1:c.9531G>C	XP_011520434.1:p.Lys3177Asn
XM_011522133.1:c.8760G>C	XP_011520435.1:p.Lys2920Asn
XM_011522134.1:c.6132G>C	XP_011520436.1:p.Lys2044Asn
XM_005268276.5:c.11901G>C	XP_005268333.1:p.Lys3967Asn
XM_006720726.3:c.12000G>C	XP_006720789.1:p.Lys4000Asn
XM_006720727.3:c.11757G>C	XP_006720790.1:p.Lys3919Asn
XM_017022695.1:c.11901G>C	XP_016878184.1:p.Lys3967Asn
XM_017022696.1:c.11901G>C	XP_016878185.1:p.Lys3967Asn
XM_017022697.1:c.5181G>C	XP_016878186.1:p.Lys1727Asn
XM_017022698.1:c.5181G>C	XP_016878187.1:p.Lys1727Asn
NM_004667.6:c.12015G>C MANE Select	NP_004658.3:p.Lys4005Asn