Canonical Allele Identifier: CA398222339

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896307A>T (hg19) ; chr17:g.12992990A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992990A>T , CM000679.2:g.12992990A>T	GRCh38
NC_000017.10:g.12896307A>T , CM000679.1:g.12896307A>T	GRCh37
NC_000017.9:g.12837032A>T	NCBI36
NG_015808.1:g.30075T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2309T>A MANE Select	ENSP00000337445.4:p.Leu770Gln
ENST00000338034.8:c.2309T>A	ENSP00000337445.4:p.Leu770Gln
ENST00000395962.6:c.2252T>A	ENSP00000379291.1:p.Leu751Gln
ENST00000426905.7:c.2189T>A	ENSP00000405223.3:p.Leu730Gln
ENST00000465825.5:n.2196T>A
ENST00000480891.5:n.2138T>A
ENST00000484122.5:n.3139T>A
ENST00000487229.6:n.1855T>A
ENST00000584650.5:c.1708T>A
NM_001165962.1:c.2189T>A	NP_001159434.1:p.Leu730Gln
NM_018127.6:c.2309T>A	NP_060597.4:p.Leu770Gln
NM_173717.1:c.2306T>A	NP_776065.1:p.Leu769Gln
XM_024450850.1:c.2468T>A	XP_024306618.1:p.Leu823Gln
XM_024450851.1:c.2390T>A	XP_024306619.1:p.Leu797Gln
XM_024450852.1:c.2387T>A	XP_024306620.1:p.Leu796Gln
XM_024450853.1:c.2384T>A	XP_024306621.1:p.Leu795Gln
XM_024450854.1:c.2348T>A	XP_024306622.1:p.Leu783Gln
XM_024450855.1:c.2267T>A	XP_024306623.1:p.Leu756Gln
XM_024450856.1:c.2186T>A	XP_024306624.1:p.Leu729Gln
XM_024450857.1:c.2186T>A	XP_024306625.1:p.Leu729Gln
XM_024450858.1:c.2105T>A	XP_024306626.1:p.Leu702Gln
XM_024450859.1:c.2102T>A	XP_024306627.1:p.Leu701Gln
XM_024450860.1:c.2027T>A	XP_024306628.1:p.Leu676Gln
XM_024450861.1:c.2027T>A	XP_024306629.1:p.Leu676Gln
XM_024450862.1:c.2024T>A	XP_024306630.1:p.Leu675Gln
NM_018127.7:c.2309T>A MANE Select	NP_060597.4:p.Leu770Gln
NM_001165962.2:c.2189T>A	NP_001159434.1:p.Leu730Gln
NM_173717.2:c.2306T>A	NP_776065.1:p.Leu769Gln