Canonical Allele Identifier: CA398222340

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896308G>C (hg19) ; chr17:g.12992991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992991G>C , CM000679.2:g.12992991G>C	GRCh38
NC_000017.10:g.12896308G>C , CM000679.1:g.12896308G>C	GRCh37
NC_000017.9:g.12837033G>C	NCBI36
NG_015808.1:g.30074C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2308C>G MANE Select	ENSP00000337445.4:p.Leu770Val
ENST00000338034.8:c.2308C>G	ENSP00000337445.4:p.Leu770Val
ENST00000395962.6:c.2251C>G	ENSP00000379291.1:p.Leu751Val
ENST00000426905.7:c.2188C>G	ENSP00000405223.3:p.Leu730Val
ENST00000465825.5:n.2195C>G
ENST00000480891.5:n.2137C>G
ENST00000484122.5:n.3138C>G
ENST00000487229.6:n.1854C>G
ENST00000584650.5:c.1707C>G
NM_001165962.1:c.2188C>G	NP_001159434.1:p.Leu730Val
NM_018127.6:c.2308C>G	NP_060597.4:p.Leu770Val
NM_173717.1:c.2305C>G	NP_776065.1:p.Leu769Val
XM_024450850.1:c.2467C>G	XP_024306618.1:p.Leu823Val
XM_024450851.1:c.2389C>G	XP_024306619.1:p.Leu797Val
XM_024450852.1:c.2386C>G	XP_024306620.1:p.Leu796Val
XM_024450853.1:c.2383C>G	XP_024306621.1:p.Leu795Val
XM_024450854.1:c.2347C>G	XP_024306622.1:p.Leu783Val
XM_024450855.1:c.2266C>G	XP_024306623.1:p.Leu756Val
XM_024450856.1:c.2185C>G	XP_024306624.1:p.Leu729Val
XM_024450857.1:c.2185C>G	XP_024306625.1:p.Leu729Val
XM_024450858.1:c.2104C>G	XP_024306626.1:p.Leu702Val
XM_024450859.1:c.2101C>G	XP_024306627.1:p.Leu701Val
XM_024450860.1:c.2026C>G	XP_024306628.1:p.Leu676Val
XM_024450861.1:c.2026C>G	XP_024306629.1:p.Leu676Val
XM_024450862.1:c.2023C>G	XP_024306630.1:p.Leu675Val
NM_018127.7:c.2308C>G MANE Select	NP_060597.4:p.Leu770Val
NM_001165962.2:c.2188C>G	NP_001159434.1:p.Leu730Val
NM_173717.2:c.2305C>G	NP_776065.1:p.Leu769Val