Canonical Allele Identifier: CA134135521

Gene: ELOVL2

Linked Data

• dbSNP Id: rs572696326
• gnomAD v2: 6-10982443-C-G
• gnomAD v3: 6-10982210-C-G
• gnomAD v4: 6-10982210-C-G
• MyVariant Identifiers: chr6:g.10982443C>G (hg19) ; chr6:g.10982210C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982210C>G , CM000668.2:g.10982210C>G	GRCh38
NC_000006.11:g.10982443C>G , CM000668.1:g.10982443C>G	GRCh37
NC_000006.10:g.11090429C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1571G>C MANE Select	ENSP00000346693.3:n.*1571G>C
ENST00000354666.3:c.*1571G>C	ENSP00000346693.3:n.*1571G>C
NM_017770.3:c.*1571G>C	NP_060240.3:n.*1571G>C
XM_011514716.1:c.*1571G>C	XP_011513018.1:n.*1571G>C
XM_011514717.1:c.*1571G>C	XP_011513019.1:n.*1571G>C
XM_011514716.3:c.*1571G>C	XP_011513018.1:n.*1571G>C
NM_017770.4:c.*1571G>C MANE Select	NP_060240.3:n.*1571G>C