Canonical Allele Identifier: CA398222201

Gene: ELAC2

Linked Data

• dbSNP Id: rs774414219
• MyVariant Identifiers: chr17:g.12896238G>C (hg19) ; chr17:g.12992921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992921G>C , CM000679.2:g.12992921G>C	GRCh38
NC_000017.10:g.12896238G>C , CM000679.1:g.12896238G>C	GRCh37
NC_000017.9:g.12836963G>C	NCBI36
NG_015808.1:g.30144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2378C>G MANE Select	ENSP00000337445.4:p.Ala793Gly
ENST00000338034.8:c.2378C>G	ENSP00000337445.4:p.Ala793Gly
ENST00000395962.6:c.2321C>G	ENSP00000379291.1:p.Ala774Gly
ENST00000426905.7:c.2258C>G	ENSP00000405223.3:p.Ala753Gly
ENST00000465825.5:n.2265C>G
ENST00000480891.5:n.2207C>G
ENST00000484122.5:n.3208C>G
ENST00000487229.6:n.1924C>G
ENST00000584650.5:c.1777C>G
NM_001165962.1:c.2258C>G	NP_001159434.1:p.Ala753Gly
NM_018127.6:c.2378C>G	NP_060597.4:p.Ala793Gly
NM_173717.1:c.2375C>G	NP_776065.1:p.Ala792Gly
XM_024450850.1:c.2537C>G	XP_024306618.1:p.Ala846Gly
XM_024450851.1:c.2459C>G	XP_024306619.1:p.Ala820Gly
XM_024450852.1:c.2456C>G	XP_024306620.1:p.Ala819Gly
XM_024450853.1:c.2453C>G	XP_024306621.1:p.Ala818Gly
XM_024450854.1:c.2417C>G	XP_024306622.1:p.Ala806Gly
XM_024450855.1:c.2336C>G	XP_024306623.1:p.Ala779Gly
XM_024450856.1:c.2255C>G	XP_024306624.1:p.Ala752Gly
XM_024450857.1:c.2255C>G	XP_024306625.1:p.Ala752Gly
XM_024450858.1:c.2174C>G	XP_024306626.1:p.Ala725Gly
XM_024450859.1:c.2171C>G	XP_024306627.1:p.Ala724Gly
XM_024450860.1:c.2096C>G	XP_024306628.1:p.Ala699Gly
XM_024450861.1:c.2096C>G	XP_024306629.1:p.Ala699Gly
XM_024450862.1:c.2093C>G	XP_024306630.1:p.Ala698Gly
NM_018127.7:c.2378C>G MANE Select	NP_060597.4:p.Ala793Gly
NM_001165962.2:c.2258C>G	NP_001159434.1:p.Ala753Gly
NM_173717.2:c.2375C>G	NP_776065.1:p.Ala792Gly