Canonical Allele Identifier: CA398222450

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1717141
• ClinVar RCV Id: RCV002296309
• MyVariant Identifiers: chr17:g.12896361A>G (hg19) ; chr17:g.12993044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993044A>G , CM000679.2:g.12993044A>G	GRCh38
NC_000017.10:g.12896361A>G , CM000679.1:g.12896361A>G	GRCh37
NC_000017.9:g.12837086A>G	NCBI36
NG_015808.1:g.30021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2255T>C MANE Select	ENSP00000337445.4:p.Val752Ala
ENST00000338034.8:c.2255T>C	ENSP00000337445.4:p.Val752Ala
ENST00000395962.6:c.2198T>C	ENSP00000379291.1:p.Val733Ala
ENST00000426905.7:c.2135T>C	ENSP00000405223.3:p.Val712Ala
ENST00000465825.5:n.2142T>C
ENST00000480891.5:n.2084T>C
ENST00000484122.5:n.3085T>C
ENST00000487229.6:n.1801T>C
ENST00000584650.5:c.1654T>C
NM_001165962.1:c.2135T>C	NP_001159434.1:p.Val712Ala
NM_018127.6:c.2255T>C	NP_060597.4:p.Val752Ala
NM_173717.1:c.2252T>C	NP_776065.1:p.Val751Ala
XM_024450850.1:c.2414T>C	XP_024306618.1:p.Val805Ala
XM_024450851.1:c.2336T>C	XP_024306619.1:p.Val779Ala
XM_024450852.1:c.2333T>C	XP_024306620.1:p.Val778Ala
XM_024450853.1:c.2330T>C	XP_024306621.1:p.Val777Ala
XM_024450854.1:c.2294T>C	XP_024306622.1:p.Val765Ala
XM_024450855.1:c.2213T>C	XP_024306623.1:p.Val738Ala
XM_024450856.1:c.2132T>C	XP_024306624.1:p.Val711Ala
XM_024450857.1:c.2132T>C	XP_024306625.1:p.Val711Ala
XM_024450858.1:c.2051T>C	XP_024306626.1:p.Val684Ala
XM_024450859.1:c.2048T>C	XP_024306627.1:p.Val683Ala
XM_024450860.1:c.1973T>C	XP_024306628.1:p.Val658Ala
XM_024450861.1:c.1973T>C	XP_024306629.1:p.Val658Ala
XM_024450862.1:c.1970T>C	XP_024306630.1:p.Val657Ala
NM_018127.7:c.2255T>C MANE Select	NP_060597.4:p.Val752Ala
NM_001165962.2:c.2135T>C	NP_001159434.1:p.Val712Ala
NM_173717.2:c.2252T>C	NP_776065.1:p.Val751Ala