Canonical Allele Identifier: CA340383972

Gene: ECHDC2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52921624C>T , CM000663.2:g.52921624C>T	GRCh38
NC_000001.10:g.53387296C>T , CM000663.1:g.53387296C>T	GRCh37
NC_000001.9:g.53159884C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371522.9:c.50G>A MANE Select	ENSP00000360577.4:p.Arg17His
ENST00000358358.9:c.50G>A	ENSP00000351125.5:p.Arg17His
ENST00000371520.5:c.50G>A	ENSP00000360575.1:p.Arg17His
ENST00000371522.8:c.50G>A	ENSP00000360577.4:p.Arg17His
ENST00000460612.5:n.139G>A
ENST00000467988.2:c.50G>A	ENSP00000441962.1:p.Arg17His
ENST00000474789.1:n.98G>A
ENST00000476477.6:c.50G>A	ENSP00000446190.1:p.Arg17His
ENST00000495920.5:n.91G>A
ENST00000536120.5:c.50G>A	ENSP00000439264.2:p.Arg17His
ENST00000542552.1:c.50G>A	ENSP00000438535.1:p.Arg17His
ENST00000544365.5:c.50G>A	ENSP00000439906.1:p.Arg17His
NM_001198961.1:c.50G>A	NP_001185890.1:p.Arg17His
NM_001198962.1:c.50G>A	NP_001185891.1:p.Arg17His
NM_018281.3:c.50G>A	NP_060751.2:p.Arg17His
XM_005271002.2:c.-591G>A	XP_005271059.1:n.-591G>A
XM_006710740.2:c.50G>A	XP_006710803.1:p.Arg17His
XM_011541709.1:c.50G>A	XP_011540011.1:p.Arg17His
XM_011541710.1:c.50G>A	XP_011540012.1:p.Arg17His
XM_011541711.1:c.50G>A	XP_011540013.1:p.Arg17His
XM_011541712.1:c.50G>A	XP_011540014.1:p.Arg17His
XM_011541714.1:c.-521G>A	XP_011540016.1:n.-521G>A
XM_011541715.1:c.-591G>A	XP_011540017.1:n.-591G>A
XM_011541721.1:c.-290G>A	XP_011540023.1:n.-290G>A
XM_011541724.1:c.50G>A	XP_011540026.1:p.Arg17His
XM_011541725.1:c.50G>A	XP_011540027.1:p.Arg17His
XR_946695.1:n.362G>A
XR_946696.1:n.362G>A
NM_001319958.1:c.-591G>A	NP_001306887.1:n.-591G>A
XM_011541709.2:c.50G>A	XP_011540011.1:p.Arg17His
XM_011541715.3:c.-591G>A	XP_011540017.1:n.-591G>A
XM_017001638.1:c.-1662G>A	XP_016857127.1:n.-1662G>A
XM_024448152.1:c.50G>A	XP_024303920.1:p.Arg17His
XM_024448153.1:c.50G>A	XP_024303921.1:p.Arg17His
XM_024448157.1:c.-1431G>A	XP_024303925.1:n.-1431G>A
XM_024448158.1:c.-290G>A	XP_024303926.1:n.-290G>A
XM_024448159.1:c.50G>A	XP_024303927.1:p.Arg17His
XM_024448160.1:c.50G>A	XP_024303928.1:p.Arg17His
XM_024448161.1:c.50G>A	XP_024303929.1:p.Arg17His
XM_024448163.1:c.-521G>A	XP_024303931.1:n.-521G>A
XR_002957011.1:n.201G>A
XR_002957012.1:n.206G>A
XR_002957013.1:n.208G>A
NM_001198961.2:c.50G>A MANE Select	NP_001185890.1:p.Arg17His
NM_001319958.2:c.-591G>A	NP_001306887.1:n.-591G>A
NM_018281.4:c.50G>A	NP_060751.2:p.Arg17His