Canonical Allele Identifier: CA398222330

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896303A>C (hg19) ; chr17:g.12992986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992986A>C , CM000679.2:g.12992986A>C	GRCh38
NC_000017.10:g.12896303A>C , CM000679.1:g.12896303A>C	GRCh37
NC_000017.9:g.12837028A>C	NCBI36
NG_015808.1:g.30079T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2313T>G MANE Select	ENSP00000337445.4:p.Phe771Leu
ENST00000338034.8:c.2313T>G	ENSP00000337445.4:p.Phe771Leu
ENST00000395962.6:c.2256T>G	ENSP00000379291.1:p.Phe752Leu
ENST00000426905.7:c.2193T>G	ENSP00000405223.3:p.Phe731Leu
ENST00000465825.5:n.2200T>G
ENST00000480891.5:n.2142T>G
ENST00000484122.5:n.3143T>G
ENST00000487229.6:n.1859T>G
ENST00000584650.5:c.1712T>G
NM_001165962.1:c.2193T>G	NP_001159434.1:p.Phe731Leu
NM_018127.6:c.2313T>G	NP_060597.4:p.Phe771Leu
NM_173717.1:c.2310T>G	NP_776065.1:p.Phe770Leu
XM_024450850.1:c.2472T>G	XP_024306618.1:p.Phe824Leu
XM_024450851.1:c.2394T>G	XP_024306619.1:p.Phe798Leu
XM_024450852.1:c.2391T>G	XP_024306620.1:p.Phe797Leu
XM_024450853.1:c.2388T>G	XP_024306621.1:p.Phe796Leu
XM_024450854.1:c.2352T>G	XP_024306622.1:p.Phe784Leu
XM_024450855.1:c.2271T>G	XP_024306623.1:p.Phe757Leu
XM_024450856.1:c.2190T>G	XP_024306624.1:p.Phe730Leu
XM_024450857.1:c.2190T>G	XP_024306625.1:p.Phe730Leu
XM_024450858.1:c.2109T>G	XP_024306626.1:p.Phe703Leu
XM_024450859.1:c.2106T>G	XP_024306627.1:p.Phe702Leu
XM_024450860.1:c.2031T>G	XP_024306628.1:p.Phe677Leu
XM_024450861.1:c.2031T>G	XP_024306629.1:p.Phe677Leu
XM_024450862.1:c.2028T>G	XP_024306630.1:p.Phe676Leu
NM_018127.7:c.2313T>G MANE Select	NP_060597.4:p.Phe771Leu
NM_001165962.2:c.2193T>G	NP_001159434.1:p.Phe731Leu
NM_173717.2:c.2310T>G	NP_776065.1:p.Phe770Leu