Canonical Allele Identifier: CA2580084105

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1951856
• ClinVar RCV Id: RCV002676541

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108240_44108241delinsAA , CM000673.2:g.44108240_44108241delinsAA	GRCh38
NC_000011.9:g.44129790_44129791delinsAA , CM000673.1:g.44129790_44129791delinsAA	GRCh37
NC_000011.8:g.44086366_44086367delinsAA	NCBI36
NG_007560.1:g.17692_17693delinsAA , LRG_494:g.17692_17693delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.528_529delinsAA	ENSP00000342656.3:p.Leu177Ile
ENST00000395673.8:c.528_529delinsAA	ENSP00000379032.4:p.Leu177Ile
ENST00000531161.6:n.687_688delinsAA
ENST00000682359.1:c.528_529delinsAA	ENSP00000508226.1:p.Leu177Ile
ENST00000682711.1:c.-544+12388_-544+12389delinsAA	ENSP00000506803.1:n.-544+12388_-544+12389delinsAA
ENST00000682815.1:c.528_529delinsAA	ENSP00000507234.1:p.Leu177Ile
ENST00000682947.1:n.702_703delinsAA
ENST00000682993.1:c.528_529delinsAA	ENSP00000507580.1:p.Leu177Ile
ENST00000683000.1:c.528_529delinsAA	ENSP00000508361.1:p.Leu177Ile
ENST00000683299.1:n.945_946delinsAA
ENST00000683870.1:c.528_529delinsAA	ENSP00000507922.1:p.Leu177Ile
ENST00000683881.1:n.3089_3090delinsAA
ENST00000684039.1:c.528_529delinsAA	ENSP00000507677.1:p.Leu177Ile
ENST00000684124.1:c.528_529delinsAA	ENSP00000508332.1:p.Leu177Ile
ENST00000684533.1:c.528_529delinsAA	ENSP00000507915.1:p.Leu177Ile
ENST00000533608.7:c.528_529delinsAA MANE Select	ENSP00000431173.2:p.Leu177Ile
ENST00000343631.3:c.528_529delinsAA	ENSP00000342656.3:p.Leu177Ile
ENST00000358681.8:c.528_529delinsAA	ENSP00000351509.4:p.Leu177Ile
ENST00000395673.7:c.627_628delinsAA	ENSP00000379032.3:p.Leu210Ile
ENST00000529186.1:n.226_227delinsAA
ENST00000533608.5:c.528_529delinsAA	ENSP00000431173.1:p.Leu177Ile
NM_000401.3:c.627_628delinsAA , LRG_494t1:c.627_628delinsAA	NP_000392.3:p.Leu210Ile
NM_001178083.1:c.528_529delinsAA	NP_001171554.1:p.Leu177Ile
NM_207122.1:c.528_529delinsAA , LRG_494t2:c.528_529delinsAA	NP_997005.1:p.Leu177Ile
XM_011519950.1:c.666_667delinsAA	XP_011518252.1:p.Leu223Ile
XM_011519951.1:c.567_568delinsAA	XP_011518253.1:p.Leu190Ile
XM_024448383.1:c.666_667delinsAA	XP_024304151.1:p.Leu223Ile
NM_001178083.2:c.528_529delinsAA	NP_001171554.1:p.Leu177Ile
NM_207122.2:c.528_529delinsAA MANE Select	NP_997005.1:p.Leu177Ile
NM_001178083.3:c.528_529delinsAA	NP_001171554.1:p.Leu177Ile
NM_001389628.1:c.528_529delinsAA	NP_001376557.1:p.Leu177Ile
NM_001389630.1:c.528_529delinsAA	NP_001376559.1:p.Leu177Ile