Canonical Allele Identifier: CA7441505
Community Standard Title: NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28192083T>C , CM000677.2:g.28192083T>C GRCh38
NC_000015.9:g.28437229T>C , CM000677.1:g.28437229T>C GRCh37
NC_000015.8:g.26110824T>C NCBI36
NG_016355.1:g.135067A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004667.6:c.8329A>G MANE Select NP_004658.3:p.Met2777Val
ENST00000261609.13:c.8329A>G MANE Select ENSP00000261609.8:p.Met2777Val
NM_004667.5:c.8329A>G NP_004658.3:p.Met2777Val
ENST00000261609.11:c.8329A>G ENSP00000261609.7:p.Met2777Val
ENST00000567869.1:n.2439A>G
ENST00000650509.1:c.40A>G ENSP00000496936.1:p.Met14Val
XM_005268276.3:c.8215A>G XP_005268333.1:p.Met2739Val
XM_005268276.5:c.8215A>G XP_005268333.1:p.Met2739Val
XM_005268277.3:c.8215A>G XP_005268334.1:p.Met2739Val
XM_006720726.2:c.8314A>G XP_006720789.1:p.Met2772Val
XM_006720726.3:c.8314A>G XP_006720789.1:p.Met2772Val
XM_006720727.2:c.8071A>G XP_006720790.1:p.Met2691Val
XM_006720727.3:c.8071A>G XP_006720790.1:p.Met2691Val
XM_011522131.1:c.7846A>G XP_011520433.1:p.Met2616Val
XM_011522132.1:c.5845A>G XP_011520434.1:p.Met1949Val
XM_011522133.1:c.5074A>G XP_011520435.1:p.Met1692Val
XM_011522134.1:c.2446A>G XP_011520436.1:p.Met816Val
XM_017022695.1:c.8215A>G XP_016878184.1:p.Met2739Val
XM_017022696.1:c.8215A>G XP_016878185.1:p.Met2739Val
XM_017022697.1:c.1495A>G XP_016878186.1:p.Met499Val
XM_017022698.1:c.1495A>G XP_016878187.1:p.Met499Val
XR_001751410.1:n.8350A>G
XR_931930.1:n.8458A>G
XR_931930.2:n.8459A>G
XR_931931.1:n.8349A>G