Canonical Allele Identifier: CA1085973581

Gene: ELOVL2

Linked Data

• dbSNP Id: rs1384875783
• gnomAD v3: 6-10982294-A-C
• gnomAD v4: 6-10982294-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982294A>C , CM000668.2:g.10982294A>C	GRCh38
NC_000006.11:g.10982527A>C , CM000668.1:g.10982527A>C	GRCh37
NC_000006.10:g.11090513A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1487T>G MANE Select	ENSP00000346693.3:n.*1487T>G
ENST00000354666.3:c.*1487T>G	ENSP00000346693.3:n.*1487T>G
NM_017770.3:c.*1487T>G	NP_060240.3:n.*1487T>G
XM_011514716.1:c.*1487T>G	XP_011513018.1:n.*1487T>G
XM_011514717.1:c.*1487T>G	XP_011513019.1:n.*1487T>G
XM_011514716.3:c.*1487T>G	XP_011513018.1:n.*1487T>G
NM_017770.4:c.*1487T>G MANE Select	NP_060240.3:n.*1487T>G