Canonical Allele Identifier: CA398222438

Gene: ELAC2

Linked Data

• dbSNP Id: rs2040267979
• gnomAD v3: 17-12993038-A-T
• gnomAD v4: 17-12993038-A-T
• MyVariant Identifiers: chr17:g.12896355A>T (hg19) ; chr17:g.12993038A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993038A>T , CM000679.2:g.12993038A>T	GRCh38
NC_000017.10:g.12896355A>T , CM000679.1:g.12896355A>T	GRCh37
NC_000017.9:g.12837080A>T	NCBI36
NG_015808.1:g.30027T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2261T>A MANE Select	ENSP00000337445.4:p.Phe754Tyr
ENST00000338034.8:c.2261T>A	ENSP00000337445.4:p.Phe754Tyr
ENST00000395962.6:c.2204T>A	ENSP00000379291.1:p.Phe735Tyr
ENST00000426905.7:c.2141T>A	ENSP00000405223.3:p.Phe714Tyr
ENST00000465825.5:n.2148T>A
ENST00000480891.5:n.2090T>A
ENST00000484122.5:n.3091T>A
ENST00000487229.6:n.1807T>A
ENST00000584650.5:c.1660T>A
NM_001165962.1:c.2141T>A	NP_001159434.1:p.Phe714Tyr
NM_018127.6:c.2261T>A	NP_060597.4:p.Phe754Tyr
NM_173717.1:c.2258T>A	NP_776065.1:p.Phe753Tyr
XM_024450850.1:c.2420T>A	XP_024306618.1:p.Phe807Tyr
XM_024450851.1:c.2342T>A	XP_024306619.1:p.Phe781Tyr
XM_024450852.1:c.2339T>A	XP_024306620.1:p.Phe780Tyr
XM_024450853.1:c.2336T>A	XP_024306621.1:p.Phe779Tyr
XM_024450854.1:c.2300T>A	XP_024306622.1:p.Phe767Tyr
XM_024450855.1:c.2219T>A	XP_024306623.1:p.Phe740Tyr
XM_024450856.1:c.2138T>A	XP_024306624.1:p.Phe713Tyr
XM_024450857.1:c.2138T>A	XP_024306625.1:p.Phe713Tyr
XM_024450858.1:c.2057T>A	XP_024306626.1:p.Phe686Tyr
XM_024450859.1:c.2054T>A	XP_024306627.1:p.Phe685Tyr
XM_024450860.1:c.1979T>A	XP_024306628.1:p.Phe660Tyr
XM_024450861.1:c.1979T>A	XP_024306629.1:p.Phe660Tyr
XM_024450862.1:c.1976T>A	XP_024306630.1:p.Phe659Tyr
NM_018127.7:c.2261T>A MANE Select	NP_060597.4:p.Phe754Tyr
NM_001165962.2:c.2141T>A	NP_001159434.1:p.Phe714Tyr
NM_173717.2:c.2258T>A	NP_776065.1:p.Phe753Tyr