Canonical Allele Identifier: CA398222116

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896193G>C (hg19) ; chr17:g.12992876G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992876G>C , CM000679.2:g.12992876G>C	GRCh38
NC_000017.10:g.12896193G>C , CM000679.1:g.12896193G>C	GRCh37
NC_000017.9:g.12836918G>C	NCBI36
NG_015808.1:g.30189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2423C>G MANE Select	ENSP00000337445.4:p.Pro808Arg
ENST00000338034.8:c.2423C>G	ENSP00000337445.4:p.Pro808Arg
ENST00000395962.6:c.2366C>G	ENSP00000379291.1:p.Pro789Arg
ENST00000426905.7:c.2303C>G	ENSP00000405223.3:p.Pro768Arg
ENST00000465825.5:n.2310C>G
ENST00000480891.5:n.2252C>G
ENST00000484122.5:n.3253C>G
ENST00000487229.6:n.1969C>G
ENST00000584650.5:c.1822C>G
NM_001165962.1:c.2303C>G	NP_001159434.1:p.Pro768Arg
NM_018127.6:c.2423C>G	NP_060597.4:p.Pro808Arg
NM_173717.1:c.2420C>G	NP_776065.1:p.Pro807Arg
XM_024450850.1:c.2582C>G	XP_024306618.1:p.Pro861Arg
XM_024450851.1:c.2504C>G	XP_024306619.1:p.Pro835Arg
XM_024450852.1:c.2501C>G	XP_024306620.1:p.Pro834Arg
XM_024450853.1:c.2498C>G	XP_024306621.1:p.Pro833Arg
XM_024450854.1:c.2462C>G	XP_024306622.1:p.Pro821Arg
XM_024450855.1:c.2381C>G	XP_024306623.1:p.Pro794Arg
XM_024450856.1:c.2300C>G	XP_024306624.1:p.Pro767Arg
XM_024450857.1:c.2300C>G	XP_024306625.1:p.Pro767Arg
XM_024450858.1:c.2219C>G	XP_024306626.1:p.Pro740Arg
XM_024450859.1:c.2216C>G	XP_024306627.1:p.Pro739Arg
XM_024450860.1:c.2141C>G	XP_024306628.1:p.Pro714Arg
XM_024450861.1:c.2141C>G	XP_024306629.1:p.Pro714Arg
XM_024450862.1:c.2138C>G	XP_024306630.1:p.Pro713Arg
NM_018127.7:c.2423C>G MANE Select	NP_060597.4:p.Pro808Arg
NM_001165962.2:c.2303C>G	NP_001159434.1:p.Pro768Arg
NM_173717.2:c.2420C>G	NP_776065.1:p.Pro807Arg