Canonical Allele Identifier: CA489235073
Gene: HERC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.28386963T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141817T>C , CM000677.2:g.28141817T>C GRCh38
NC_000015.9:g.28386963T>C , CM000677.1:g.28386963T>C GRCh37
NC_000015.8:g.26060558T>C NCBI36
NG_016355.1:g.185333A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11730A>G MANE Select ENSP00000261609.8:p.Ala3910=
ENST00000650509.1:c.3441A>G ENSP00000496936.1:p.Ala1147=
ENST00000261609.11:c.11730A>G ENSP00000261609.7:p.Ala3910=
ENST00000564519.1:n.245A>G
NM_004667.5:c.11730A>G NP_004658.3:p.Ala3910=
XM_005268276.3:c.11616A>G XP_005268333.1:p.Ala3872=
XM_005268277.3:c.11616A>G XP_005268334.1:p.Ala3872=
XM_006720726.2:c.11715A>G XP_006720789.1:p.Ala3905=
XM_006720727.2:c.11472A>G XP_006720790.1:p.Ala3824=
XM_011522131.1:c.11247A>G XP_011520433.1:p.Ala3749=
XM_011522132.1:c.9246A>G XP_011520434.1:p.Ala3082=
XM_011522133.1:c.8475A>G XP_011520435.1:p.Ala2825=
XM_011522134.1:c.5847A>G XP_011520436.1:p.Ala1949=
XM_005268276.5:c.11616A>G XP_005268333.1:p.Ala3872=
XM_006720726.3:c.11715A>G XP_006720789.1:p.Ala3905=
XM_006720727.3:c.11472A>G XP_006720790.1:p.Ala3824=
XM_017022695.1:c.11616A>G XP_016878184.1:p.Ala3872=
XM_017022696.1:c.11616A>G XP_016878185.1:p.Ala3872=
XM_017022697.1:c.4896A>G XP_016878186.1:p.Ala1632=
XM_017022698.1:c.4896A>G XP_016878187.1:p.Ala1632=
NM_004667.6:c.11730A>G MANE Select NP_004658.3:p.Ala3910=