Canonical Allele Identifier: CA489234640
Gene: HERC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.28386587A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141441A>G , CM000677.2:g.28141441A>G GRCh38
NC_000015.9:g.28386587A>G , CM000677.1:g.28386587A>G GRCh37
NC_000015.8:g.26060182A>G NCBI36
NG_016355.1:g.185709T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.12006T>C MANE Select ENSP00000261609.8:p.Ala4002=
ENST00000650509.1:c.3717T>C ENSP00000496936.1:p.Ala1239=
ENST00000261609.11:c.12006T>C ENSP00000261609.7:p.Ala4002=
NM_004667.5:c.12006T>C NP_004658.3:p.Ala4002=
XM_005268276.3:c.11892T>C XP_005268333.1:p.Ala3964=
XM_005268277.3:c.11892T>C XP_005268334.1:p.Ala3964=
XM_006720726.2:c.11991T>C XP_006720789.1:p.Ala3997=
XM_006720727.2:c.11748T>C XP_006720790.1:p.Ala3916=
XM_011522131.1:c.11523T>C XP_011520433.1:p.Ala3841=
XM_011522132.1:c.9522T>C XP_011520434.1:p.Ala3174=
XM_011522133.1:c.8751T>C XP_011520435.1:p.Ala2917=
XM_011522134.1:c.6123T>C XP_011520436.1:p.Ala2041=
XM_005268276.5:c.11892T>C XP_005268333.1:p.Ala3964=
XM_006720726.3:c.11991T>C XP_006720789.1:p.Ala3997=
XM_006720727.3:c.11748T>C XP_006720790.1:p.Ala3916=
XM_017022695.1:c.11892T>C XP_016878184.1:p.Ala3964=
XM_017022696.1:c.11892T>C XP_016878185.1:p.Ala3964=
XM_017022697.1:c.5172T>C XP_016878186.1:p.Ala1724=
XM_017022698.1:c.5172T>C XP_016878187.1:p.Ala1724=
NM_004667.6:c.12006T>C MANE Select NP_004658.3:p.Ala4002=