Canonical Allele Identifier: CA398222189

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896230A>G (hg19) ; chr17:g.12992913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992913A>G , CM000679.2:g.12992913A>G	GRCh38
NC_000017.10:g.12896230A>G , CM000679.1:g.12896230A>G	GRCh37
NC_000017.9:g.12836955A>G	NCBI36
NG_015808.1:g.30152T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2386T>C MANE Select	ENSP00000337445.4:p.Ser796Pro
ENST00000338034.8:c.2386T>C	ENSP00000337445.4:p.Ser796Pro
ENST00000395962.6:c.2329T>C	ENSP00000379291.1:p.Ser777Pro
ENST00000426905.7:c.2266T>C	ENSP00000405223.3:p.Ser756Pro
ENST00000465825.5:n.2273T>C
ENST00000480891.5:n.2215T>C
ENST00000484122.5:n.3216T>C
ENST00000487229.6:n.1932T>C
ENST00000584650.5:c.1785T>C
NM_001165962.1:c.2266T>C	NP_001159434.1:p.Ser756Pro
NM_018127.6:c.2386T>C	NP_060597.4:p.Ser796Pro
NM_173717.1:c.2383T>C	NP_776065.1:p.Ser795Pro
XM_024450850.1:c.2545T>C	XP_024306618.1:p.Ser849Pro
XM_024450851.1:c.2467T>C	XP_024306619.1:p.Ser823Pro
XM_024450852.1:c.2464T>C	XP_024306620.1:p.Ser822Pro
XM_024450853.1:c.2461T>C	XP_024306621.1:p.Ser821Pro
XM_024450854.1:c.2425T>C	XP_024306622.1:p.Ser809Pro
XM_024450855.1:c.2344T>C	XP_024306623.1:p.Ser782Pro
XM_024450856.1:c.2263T>C	XP_024306624.1:p.Ser755Pro
XM_024450857.1:c.2263T>C	XP_024306625.1:p.Ser755Pro
XM_024450858.1:c.2182T>C	XP_024306626.1:p.Ser728Pro
XM_024450859.1:c.2179T>C	XP_024306627.1:p.Ser727Pro
XM_024450860.1:c.2104T>C	XP_024306628.1:p.Ser702Pro
XM_024450861.1:c.2104T>C	XP_024306629.1:p.Ser702Pro
XM_024450862.1:c.2101T>C	XP_024306630.1:p.Ser701Pro
NM_018127.7:c.2386T>C MANE Select	NP_060597.4:p.Ser796Pro
NM_001165962.2:c.2266T>C	NP_001159434.1:p.Ser756Pro
NM_173717.2:c.2383T>C	NP_776065.1:p.Ser795Pro