Canonical Allele Identifier: CA12315014
Gene: ELOVL2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.10982126G>A
GRCh37 chr6:g.10982359G>A
gnomAD v2:
6:10982359 G / A
gnomAD v3:
6:10982126 G / A
gnomAD v4:
chr6-10982126-G-A
Joint Max Group AF 0.24573763 (MID)
Genomes Max Group AF 0.23931839 (EAS)
Exomes Max Group AF 0.06831518 (NFE)
dbSNP:
17606561
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982126G>A , CM000668.2:g.10982126G>A GRCh38
NC_000006.11:g.10982359G>A , CM000668.1:g.10982359G>A GRCh37
NC_000006.10:g.11090345G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1655C>T MANE Select ENSP00000346693.3:n.*1655C>T
ENST00000354666.3:c.*1655C>T ENSP00000346693.3:n.*1655C>T
NM_017770.3:c.*1655C>T NP_060240.3:n.*1655C>T
XM_011514716.1:c.*1655C>T XP_011513018.1:n.*1655C>T
XM_011514717.1:c.*1655C>T XP_011513019.1:n.*1655C>T
XM_011514716.3:c.*1655C>T XP_011513018.1:n.*1655C>T
NM_017770.4:c.*1655C>T MANE Select NP_060240.3:n.*1655C>T
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