Canonical Allele Identifier: CA398222207

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896242C>A (hg19) ; chr17:g.12992925C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992925C>A , CM000679.2:g.12992925C>A	GRCh38
NC_000017.10:g.12896242C>A , CM000679.1:g.12896242C>A	GRCh37
NC_000017.9:g.12836967C>A	NCBI36
NG_015808.1:g.30140G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2374G>T MANE Select	ENSP00000337445.4:p.Ala792Ser
ENST00000338034.8:c.2374G>T	ENSP00000337445.4:p.Ala792Ser
ENST00000395962.6:c.2317G>T	ENSP00000379291.1:p.Ala773Ser
ENST00000426905.7:c.2254G>T	ENSP00000405223.3:p.Ala752Ser
ENST00000465825.5:n.2261G>T
ENST00000480891.5:n.2203G>T
ENST00000484122.5:n.3204G>T
ENST00000487229.6:n.1920G>T
ENST00000584650.5:c.1773G>T
NM_001165962.1:c.2254G>T	NP_001159434.1:p.Ala752Ser
NM_018127.6:c.2374G>T	NP_060597.4:p.Ala792Ser
NM_173717.1:c.2371G>T	NP_776065.1:p.Ala791Ser
XM_024450850.1:c.2533G>T	XP_024306618.1:p.Ala845Ser
XM_024450851.1:c.2455G>T	XP_024306619.1:p.Ala819Ser
XM_024450852.1:c.2452G>T	XP_024306620.1:p.Ala818Ser
XM_024450853.1:c.2449G>T	XP_024306621.1:p.Ala817Ser
XM_024450854.1:c.2413G>T	XP_024306622.1:p.Ala805Ser
XM_024450855.1:c.2332G>T	XP_024306623.1:p.Ala778Ser
XM_024450856.1:c.2251G>T	XP_024306624.1:p.Ala751Ser
XM_024450857.1:c.2251G>T	XP_024306625.1:p.Ala751Ser
XM_024450858.1:c.2170G>T	XP_024306626.1:p.Ala724Ser
XM_024450859.1:c.2167G>T	XP_024306627.1:p.Ala723Ser
XM_024450860.1:c.2092G>T	XP_024306628.1:p.Ala698Ser
XM_024450861.1:c.2092G>T	XP_024306629.1:p.Ala698Ser
XM_024450862.1:c.2089G>T	XP_024306630.1:p.Ala697Ser
NM_018127.7:c.2374G>T MANE Select	NP_060597.4:p.Ala792Ser
NM_001165962.2:c.2254G>T	NP_001159434.1:p.Ala752Ser
NM_173717.2:c.2371G>T	NP_776065.1:p.Ala791Ser