Canonical Allele Identifier: CA398222221

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896250T>G (hg19) ; chr17:g.12992933T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992933T>G , CM000679.2:g.12992933T>G	GRCh38
NC_000017.10:g.12896250T>G , CM000679.1:g.12896250T>G	GRCh37
NC_000017.9:g.12836975T>G	NCBI36
NG_015808.1:g.30132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2366A>C MANE Select	ENSP00000337445.4:p.Gln789Pro
ENST00000338034.8:c.2366A>C	ENSP00000337445.4:p.Gln789Pro
ENST00000395962.6:c.2309A>C	ENSP00000379291.1:p.Gln770Pro
ENST00000426905.7:c.2246A>C	ENSP00000405223.3:p.Gln749Pro
ENST00000465825.5:n.2253A>C
ENST00000480891.5:n.2195A>C
ENST00000484122.5:n.3196A>C
ENST00000487229.6:n.1912A>C
ENST00000584650.5:c.1765A>C
NM_001165962.1:c.2246A>C	NP_001159434.1:p.Gln749Pro
NM_018127.6:c.2366A>C	NP_060597.4:p.Gln789Pro
NM_173717.1:c.2363A>C	NP_776065.1:p.Gln788Pro
XM_024450850.1:c.2525A>C	XP_024306618.1:p.Gln842Pro
XM_024450851.1:c.2447A>C	XP_024306619.1:p.Gln816Pro
XM_024450852.1:c.2444A>C	XP_024306620.1:p.Gln815Pro
XM_024450853.1:c.2441A>C	XP_024306621.1:p.Gln814Pro
XM_024450854.1:c.2405A>C	XP_024306622.1:p.Gln802Pro
XM_024450855.1:c.2324A>C	XP_024306623.1:p.Gln775Pro
XM_024450856.1:c.2243A>C	XP_024306624.1:p.Gln748Pro
XM_024450857.1:c.2243A>C	XP_024306625.1:p.Gln748Pro
XM_024450858.1:c.2162A>C	XP_024306626.1:p.Gln721Pro
XM_024450859.1:c.2159A>C	XP_024306627.1:p.Gln720Pro
XM_024450860.1:c.2084A>C	XP_024306628.1:p.Gln695Pro
XM_024450861.1:c.2084A>C	XP_024306629.1:p.Gln695Pro
XM_024450862.1:c.2081A>C	XP_024306630.1:p.Gln694Pro
NM_018127.7:c.2366A>C MANE Select	NP_060597.4:p.Gln789Pro
NM_001165962.2:c.2246A>C	NP_001159434.1:p.Gln749Pro
NM_173717.2:c.2363A>C	NP_776065.1:p.Gln788Pro