Canonical Allele Identifier: CA2580612852

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1479896
• ClinVar RCV Id: RCV002009918
• dbSNP Id: rs2143538654

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992828_12992829del , CM000679.2:g.12992828_12992829del	GRCh38
NC_000017.10:g.12896145_12896146del , CM000679.1:g.12896145_12896146del	GRCh37
NC_000017.9:g.12836870_12836871del	NCBI36
NG_015808.1:g.30238_30239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2472_2473del MANE Select	ENSP00000337445.4:p.Arg824SerfsTer?
ENST00000338034.8:c.2472_2473del	ENSP00000337445.4:p.Arg824SerfsTer?
ENST00000395962.6:c.2415_2416del	ENSP00000379291.1:p.Arg805SerfsTer?
ENST00000426905.7:c.2352_2353del	ENSP00000405223.3:p.Arg784SerfsTer?
ENST00000465825.5:n.2359_2360del
ENST00000480891.5:n.2301_2302del
ENST00000484122.5:n.3302_3303del
ENST00000487229.6:n.2018_2019del
ENST00000584650.5:c.1871_1872del
NM_001165962.1:c.2352_2353del	NP_001159434.1:p.Arg784SerfsTer?
NM_018127.6:c.2472_2473del	NP_060597.4:p.Arg824SerfsTer?
NM_173717.1:c.2469_2470del	NP_776065.1:p.Arg823SerfsTer?
XM_024450850.1:c.2631_2632del	XP_024306618.1:p.Arg877SerfsTer?
XM_024450851.1:c.2553_2554del	XP_024306619.1:p.Arg851SerfsTer?
XM_024450852.1:c.2550_2551del	XP_024306620.1:p.Arg850SerfsTer?
XM_024450853.1:c.2547_2548del	XP_024306621.1:p.Arg849SerfsTer?
XM_024450854.1:c.2511_2512del	XP_024306622.1:p.Arg837SerfsTer?
XM_024450855.1:c.2430_2431del	XP_024306623.1:p.Arg810SerfsTer?
XM_024450856.1:c.2349_2350del	XP_024306624.1:p.Arg783SerfsTer?
XM_024450857.1:c.2349_2350del	XP_024306625.1:p.Arg783SerfsTer?
XM_024450858.1:c.2268_2269del	XP_024306626.1:p.Arg756SerfsTer?
XM_024450859.1:c.2265_2266del	XP_024306627.1:p.Arg755SerfsTer?
XM_024450860.1:c.2190_2191del	XP_024306628.1:p.Arg730SerfsTer?
XM_024450861.1:c.2190_2191del	XP_024306629.1:p.Arg730SerfsTer?
XM_024450862.1:c.2187_2188del	XP_024306630.1:p.Arg729SerfsTer?
NM_018127.7:c.2472_2473del MANE Select	NP_060597.4:p.Arg824SerfsTer?
NM_001165962.2:c.2352_2353del	NP_001159434.1:p.Arg784SerfsTer?
NM_173717.2:c.2469_2470del	NP_776065.1:p.Arg823SerfsTer?