Canonical Allele Identifier: CA398222343

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896310G>C (hg19) ; chr17:g.12992993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992993G>C , CM000679.2:g.12992993G>C	GRCh38
NC_000017.10:g.12896310G>C , CM000679.1:g.12896310G>C	GRCh37
NC_000017.9:g.12837035G>C	NCBI36
NG_015808.1:g.30072C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2306C>G MANE Select	ENSP00000337445.4:p.Ala769Gly
ENST00000338034.8:c.2306C>G	ENSP00000337445.4:p.Ala769Gly
ENST00000395962.6:c.2249C>G	ENSP00000379291.1:p.Ala750Gly
ENST00000426905.7:c.2186C>G	ENSP00000405223.3:p.Ala729Gly
ENST00000465825.5:n.2193C>G
ENST00000480891.5:n.2135C>G
ENST00000484122.5:n.3136C>G
ENST00000487229.6:n.1852C>G
ENST00000584650.5:c.1705C>G
NM_001165962.1:c.2186C>G	NP_001159434.1:p.Ala729Gly
NM_018127.6:c.2306C>G	NP_060597.4:p.Ala769Gly
NM_173717.1:c.2303C>G	NP_776065.1:p.Ala768Gly
XM_024450850.1:c.2465C>G	XP_024306618.1:p.Ala822Gly
XM_024450851.1:c.2387C>G	XP_024306619.1:p.Ala796Gly
XM_024450852.1:c.2384C>G	XP_024306620.1:p.Ala795Gly
XM_024450853.1:c.2381C>G	XP_024306621.1:p.Ala794Gly
XM_024450854.1:c.2345C>G	XP_024306622.1:p.Ala782Gly
XM_024450855.1:c.2264C>G	XP_024306623.1:p.Ala755Gly
XM_024450856.1:c.2183C>G	XP_024306624.1:p.Ala728Gly
XM_024450857.1:c.2183C>G	XP_024306625.1:p.Ala728Gly
XM_024450858.1:c.2102C>G	XP_024306626.1:p.Ala701Gly
XM_024450859.1:c.2099C>G	XP_024306627.1:p.Ala700Gly
XM_024450860.1:c.2024C>G	XP_024306628.1:p.Ala675Gly
XM_024450861.1:c.2024C>G	XP_024306629.1:p.Ala675Gly
XM_024450862.1:c.2021C>G	XP_024306630.1:p.Ala674Gly
NM_018127.7:c.2306C>G MANE Select	NP_060597.4:p.Ala769Gly
NM_001165962.2:c.2186C>G	NP_001159434.1:p.Ala729Gly
NM_173717.2:c.2303C>G	NP_776065.1:p.Ala768Gly