Canonical Allele Identifier: CA398222090

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992864-C-G
• MyVariant Identifiers: chr17:g.12896181C>G (hg19) ; chr17:g.12992864C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992864C>G , CM000679.2:g.12992864C>G	GRCh38
NC_000017.10:g.12896181C>G , CM000679.1:g.12896181C>G	GRCh37
NC_000017.9:g.12836906C>G	NCBI36
NG_015808.1:g.30201G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2435G>C MANE Select	ENSP00000337445.4:p.Arg812Pro
ENST00000338034.8:c.2435G>C	ENSP00000337445.4:p.Arg812Pro
ENST00000395962.6:c.2378G>C	ENSP00000379291.1:p.Arg793Pro
ENST00000426905.7:c.2315G>C	ENSP00000405223.3:p.Arg772Pro
ENST00000465825.5:n.2322G>C
ENST00000480891.5:n.2264G>C
ENST00000484122.5:n.3265G>C
ENST00000487229.6:n.1981G>C
ENST00000584650.5:c.1834G>C
NM_001165962.1:c.2315G>C	NP_001159434.1:p.Arg772Pro
NM_018127.6:c.2435G>C	NP_060597.4:p.Arg812Pro
NM_173717.1:c.2432G>C	NP_776065.1:p.Arg811Pro
XM_024450850.1:c.2594G>C	XP_024306618.1:p.Arg865Pro
XM_024450851.1:c.2516G>C	XP_024306619.1:p.Arg839Pro
XM_024450852.1:c.2513G>C	XP_024306620.1:p.Arg838Pro
XM_024450853.1:c.2510G>C	XP_024306621.1:p.Arg837Pro
XM_024450854.1:c.2474G>C	XP_024306622.1:p.Arg825Pro
XM_024450855.1:c.2393G>C	XP_024306623.1:p.Arg798Pro
XM_024450856.1:c.2312G>C	XP_024306624.1:p.Arg771Pro
XM_024450857.1:c.2312G>C	XP_024306625.1:p.Arg771Pro
XM_024450858.1:c.2231G>C	XP_024306626.1:p.Arg744Pro
XM_024450859.1:c.2228G>C	XP_024306627.1:p.Arg743Pro
XM_024450860.1:c.2153G>C	XP_024306628.1:p.Arg718Pro
XM_024450861.1:c.2153G>C	XP_024306629.1:p.Arg718Pro
XM_024450862.1:c.2150G>C	XP_024306630.1:p.Arg717Pro
NM_018127.7:c.2435G>C MANE Select	NP_060597.4:p.Arg812Pro
NM_001165962.2:c.2315G>C	NP_001159434.1:p.Arg772Pro
NM_173717.2:c.2432G>C	NP_776065.1:p.Arg811Pro