Canonical Allele Identifier: CA15484178

Gene: ELOVL2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11040190A>G , CM000668.2:g.11040190A>G	GRCh38
NC_000006.11:g.11040423A>G , CM000668.1:g.11040423A>G	GRCh37
NC_000006.10:g.11148409A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.3+4038T>C MANE Select	ENSP00000346693.3:n.3+4038T>C
ENST00000354666.3:c.3+4038T>C	ENSP00000346693.3:n.3+4038T>C
NM_017770.3:c.3+4038T>C	NP_060240.3:n.3+4038T>C
NM_017770.4:c.3+4038T>C MANE Select	NP_060240.3:n.3+4038T>C