Canonical Allele Identifier: CA288075122

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1139907
• ClinVar RCV Id: RCV001476749
• dbSNP Id: rs141048290
• MyVariant Identifiers: chr17:g.12896327C>G (hg19) ; chr17:g.12993010C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993010C>G , CM000679.2:g.12993010C>G	GRCh38
NC_000017.10:g.12896327C>G , CM000679.1:g.12896327C>G	GRCh37
NC_000017.9:g.12837052C>G	NCBI36
NG_015808.1:g.30055G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2289G>C MANE Select	ENSP00000337445.4:p.Leu763=
ENST00000338034.8:c.2289G>C	ENSP00000337445.4:p.Leu763=
ENST00000395962.6:c.2232G>C	ENSP00000379291.1:p.Leu744=
ENST00000426905.7:c.2169G>C	ENSP00000405223.3:p.Leu723=
ENST00000465825.5:n.2176G>C
ENST00000480891.5:n.2118G>C
ENST00000484122.5:n.3119G>C
ENST00000487229.6:n.1835G>C
ENST00000584650.5:c.1688G>C
NM_001165962.1:c.2169G>C	NP_001159434.1:p.Leu723=
NM_018127.6:c.2289G>C	NP_060597.4:p.Leu763=
NM_173717.1:c.2286G>C	NP_776065.1:p.Leu762=
XM_024450850.1:c.2448G>C	XP_024306618.1:p.Leu816=
XM_024450851.1:c.2370G>C	XP_024306619.1:p.Leu790=
XM_024450852.1:c.2367G>C	XP_024306620.1:p.Leu789=
XM_024450853.1:c.2364G>C	XP_024306621.1:p.Leu788=
XM_024450854.1:c.2328G>C	XP_024306622.1:p.Leu776=
XM_024450855.1:c.2247G>C	XP_024306623.1:p.Leu749=
XM_024450856.1:c.2166G>C	XP_024306624.1:p.Leu722=
XM_024450857.1:c.2166G>C	XP_024306625.1:p.Leu722=
XM_024450858.1:c.2085G>C	XP_024306626.1:p.Leu695=
XM_024450859.1:c.2082G>C	XP_024306627.1:p.Leu694=
XM_024450860.1:c.2007G>C	XP_024306628.1:p.Leu669=
XM_024450861.1:c.2007G>C	XP_024306629.1:p.Leu669=
XM_024450862.1:c.2004G>C	XP_024306630.1:p.Leu668=
NM_018127.7:c.2289G>C MANE Select	NP_060597.4:p.Leu763=
NM_001165962.2:c.2169G>C	NP_001159434.1:p.Leu723=
NM_173717.2:c.2286G>C	NP_776065.1:p.Leu762=