Canonical Allele Identifier: CA398222402

Gene: ELAC2

Linked Data

• dbSNP Id: rs989490256
• gnomAD v4: 17-12993021-T-C
• MyVariant Identifiers: chr17:g.12896338T>C (hg19) ; chr17:g.12993021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993021T>C , CM000679.2:g.12993021T>C	GRCh38
NC_000017.10:g.12896338T>C , CM000679.1:g.12896338T>C	GRCh37
NC_000017.9:g.12837063T>C	NCBI36
NG_015808.1:g.30044A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2278A>G MANE Select	ENSP00000337445.4:p.Met760Val
ENST00000338034.8:c.2278A>G	ENSP00000337445.4:p.Met760Val
ENST00000395962.6:c.2221A>G	ENSP00000379291.1:p.Met741Val
ENST00000426905.7:c.2158A>G	ENSP00000405223.3:p.Met720Val
ENST00000465825.5:n.2165A>G
ENST00000480891.5:n.2107A>G
ENST00000484122.5:n.3108A>G
ENST00000487229.6:n.1824A>G
ENST00000584650.5:c.1677A>G
NM_001165962.1:c.2158A>G	NP_001159434.1:p.Met720Val
NM_018127.6:c.2278A>G	NP_060597.4:p.Met760Val
NM_173717.1:c.2275A>G	NP_776065.1:p.Met759Val
XM_024450850.1:c.2437A>G	XP_024306618.1:p.Met813Val
XM_024450851.1:c.2359A>G	XP_024306619.1:p.Met787Val
XM_024450852.1:c.2356A>G	XP_024306620.1:p.Met786Val
XM_024450853.1:c.2353A>G	XP_024306621.1:p.Met785Val
XM_024450854.1:c.2317A>G	XP_024306622.1:p.Met773Val
XM_024450855.1:c.2236A>G	XP_024306623.1:p.Met746Val
XM_024450856.1:c.2155A>G	XP_024306624.1:p.Met719Val
XM_024450857.1:c.2155A>G	XP_024306625.1:p.Met719Val
XM_024450858.1:c.2074A>G	XP_024306626.1:p.Met692Val
XM_024450859.1:c.2071A>G	XP_024306627.1:p.Met691Val
XM_024450860.1:c.1996A>G	XP_024306628.1:p.Met666Val
XM_024450861.1:c.1996A>G	XP_024306629.1:p.Met666Val
XM_024450862.1:c.1993A>G	XP_024306630.1:p.Met665Val
NM_018127.7:c.2278A>G MANE Select	NP_060597.4:p.Met760Val
NM_001165962.2:c.2158A>G	NP_001159434.1:p.Met720Val
NM_173717.2:c.2275A>G	NP_776065.1:p.Met759Val