Canonical Allele Identifier: CA1610232055
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs1781944087

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982043T>C , CM000668.2:g.10982043T>C GRCh38
NC_000006.11:g.10982276T>C , CM000668.1:g.10982276T>C GRCh37
NC_000006.10:g.11090262T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1738A>G MANE Select ENSP00000346693.3:n.*1738A>G
ENST00000354666.3:c.*1738A>G ENSP00000346693.3:n.*1738A>G
NM_017770.3:c.*1738A>G NP_060240.3:n.*1738A>G
XM_011514716.1:c.*1738A>G XP_011513018.1:n.*1738A>G
XM_011514717.1:c.*1738A>G XP_011513019.1:n.*1738A>G
XM_011514716.3:c.*1738A>G XP_011513018.1:n.*1738A>G
NM_017770.4:c.*1738A>G MANE Select NP_060240.3:n.*1738A>G