Canonical Allele Identifier: CA2677321304

Gene: ELOVL2

Linked Data

• gnomAD v4: 6-10982036-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982036G>C , CM000668.2:g.10982036G>C	GRCh38
NC_000006.11:g.10982269G>C , CM000668.1:g.10982269G>C	GRCh37
NC_000006.10:g.11090255G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000354666.4:c.*1745C>G MANE Select	ENSP00000346693.3:n.*1745C>G
ENST00000354666.3:c.*1745C>G	ENSP00000346693.3:n.*1745C>G
NM_017770.3:c.*1745C>G	NP_060240.3:n.*1745C>G
XM_011514716.1:c.*1745C>G	XP_011513018.1:n.*1745C>G
XM_011514717.1:c.*1745C>G	XP_011513019.1:n.*1745C>G
XM_011514716.3:c.*1745C>G	XP_011513018.1:n.*1745C>G
NM_017770.4:c.*1745C>G MANE Select	NP_060240.3:n.*1745C>G