Canonical Allele Identifier: CA391382034
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141834T>G , CM000677.2:g.28141834T>G GRCh38
NC_000015.9:g.28386980T>G , CM000677.1:g.28386980T>G GRCh37
NC_000015.8:g.26060575T>G NCBI36
NG_016355.1:g.185316A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11713A>C MANE Select ENSP00000261609.8:p.Ile3905Leu
ENST00000650509.1:c.3424A>C ENSP00000496936.1:p.Ile1142Leu
ENST00000261609.11:c.11713A>C ENSP00000261609.7:p.Ile3905Leu
ENST00000564519.1:n.228A>C
NM_004667.5:c.11713A>C NP_004658.3:p.Ile3905Leu
XM_005268276.3:c.11599A>C XP_005268333.1:p.Ile3867Leu
XM_005268277.3:c.11599A>C XP_005268334.1:p.Ile3867Leu
XM_006720726.2:c.11698A>C XP_006720789.1:p.Ile3900Leu
XM_006720727.2:c.11455A>C XP_006720790.1:p.Ile3819Leu
XM_011522131.1:c.11230A>C XP_011520433.1:p.Ile3744Leu
XM_011522132.1:c.9229A>C XP_011520434.1:p.Ile3077Leu
XM_011522133.1:c.8458A>C XP_011520435.1:p.Ile2820Leu
XM_011522134.1:c.5830A>C XP_011520436.1:p.Ile1944Leu
XM_005268276.5:c.11599A>C XP_005268333.1:p.Ile3867Leu
XM_006720726.3:c.11698A>C XP_006720789.1:p.Ile3900Leu
XM_006720727.3:c.11455A>C XP_006720790.1:p.Ile3819Leu
XM_017022695.1:c.11599A>C XP_016878184.1:p.Ile3867Leu
XM_017022696.1:c.11599A>C XP_016878185.1:p.Ile3867Leu
XM_017022697.1:c.4879A>C XP_016878186.1:p.Ile1627Leu
XM_017022698.1:c.4879A>C XP_016878187.1:p.Ile1627Leu
NM_004667.6:c.11713A>C MANE Select NP_004658.3:p.Ile3905Leu