Canonical Allele Identifier: CA398222002

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896140G>C (hg19) ; chr17:g.12992823G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992823G>C , CM000679.2:g.12992823G>C	GRCh38
NC_000017.10:g.12896140G>C , CM000679.1:g.12896140G>C	GRCh37
NC_000017.9:g.12836865G>C	NCBI36
NG_015808.1:g.30242C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2476C>G MANE Select	ENSP00000337445.4:p.Gln826Glu
ENST00000338034.8:c.2476C>G	ENSP00000337445.4:p.Gln826Glu
ENST00000395962.6:c.2419C>G	ENSP00000379291.1:p.Gln807Glu
ENST00000426905.7:c.2356C>G	ENSP00000405223.3:p.Gln786Glu
ENST00000465825.5:n.2363C>G
ENST00000480891.5:n.2305C>G
ENST00000484122.5:n.3306C>G
ENST00000487229.6:n.2022C>G
ENST00000584650.5:c.1875C>G
NM_001165962.1:c.2356C>G	NP_001159434.1:p.Gln786Glu
NM_018127.6:c.2476C>G	NP_060597.4:p.Gln826Glu
NM_173717.1:c.2473C>G	NP_776065.1:p.Gln825Glu
XM_024450850.1:c.2635C>G	XP_024306618.1:p.Gln879Glu
XM_024450851.1:c.2557C>G	XP_024306619.1:p.Gln853Glu
XM_024450852.1:c.2554C>G	XP_024306620.1:p.Gln852Glu
XM_024450853.1:c.2551C>G	XP_024306621.1:p.Gln851Glu
XM_024450854.1:c.2515C>G	XP_024306622.1:p.Gln839Glu
XM_024450855.1:c.2434C>G	XP_024306623.1:p.Gln812Glu
XM_024450856.1:c.2353C>G	XP_024306624.1:p.Gln785Glu
XM_024450857.1:c.2353C>G	XP_024306625.1:p.Gln785Glu
XM_024450858.1:c.2272C>G	XP_024306626.1:p.Gln758Glu
XM_024450859.1:c.2269C>G	XP_024306627.1:p.Gln757Glu
XM_024450860.1:c.2194C>G	XP_024306628.1:p.Gln732Glu
XM_024450861.1:c.2194C>G	XP_024306629.1:p.Gln732Glu
XM_024450862.1:c.2191C>G	XP_024306630.1:p.Gln731Glu
NM_018127.7:c.2476C>G MANE Select	NP_060597.4:p.Gln826Glu
NM_001165962.2:c.2356C>G	NP_001159434.1:p.Gln786Glu
NM_173717.2:c.2473C>G	NP_776065.1:p.Gln825Glu