Canonical Allele Identifier: CA391381962
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141803A>C , CM000677.2:g.28141803A>C GRCh38
NC_000015.9:g.28386949A>C , CM000677.1:g.28386949A>C GRCh37
NC_000015.8:g.26060544A>C NCBI36
NG_016355.1:g.185347T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11744T>G MANE Select ENSP00000261609.8:p.Met3915Arg
ENST00000650509.1:c.3455T>G ENSP00000496936.1:p.Met1152Arg
ENST00000261609.11:c.11744T>G ENSP00000261609.7:p.Met3915Arg
ENST00000564519.1:n.259T>G
NM_004667.5:c.11744T>G NP_004658.3:p.Met3915Arg
XM_005268276.3:c.11630T>G XP_005268333.1:p.Met3877Arg
XM_005268277.3:c.11630T>G XP_005268334.1:p.Met3877Arg
XM_006720726.2:c.11729T>G XP_006720789.1:p.Met3910Arg
XM_006720727.2:c.11486T>G XP_006720790.1:p.Met3829Arg
XM_011522131.1:c.11261T>G XP_011520433.1:p.Met3754Arg
XM_011522132.1:c.9260T>G XP_011520434.1:p.Met3087Arg
XM_011522133.1:c.8489T>G XP_011520435.1:p.Met2830Arg
XM_011522134.1:c.5861T>G XP_011520436.1:p.Met1954Arg
XM_005268276.5:c.11630T>G XP_005268333.1:p.Met3877Arg
XM_006720726.3:c.11729T>G XP_006720789.1:p.Met3910Arg
XM_006720727.3:c.11486T>G XP_006720790.1:p.Met3829Arg
XM_017022695.1:c.11630T>G XP_016878184.1:p.Met3877Arg
XM_017022696.1:c.11630T>G XP_016878185.1:p.Met3877Arg
XM_017022697.1:c.4910T>G XP_016878186.1:p.Met1637Arg
XM_017022698.1:c.4910T>G XP_016878187.1:p.Met1637Arg
NM_004667.6:c.11744T>G MANE Select NP_004658.3:p.Met3915Arg