Canonical Allele Identifier: CA380179284

Gene: EXT2

Linked Data

• ClinVar Variation Id: 450237
• ClinVar RCV Id: RCV000522730
• dbSNP Id: rs1555016719
• MyVariant Identifiers: chr11:g.44219552T>G (hg19) ; chr11:g.44198002T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44198002T>G , CM000673.2:g.44198002T>G	GRCh38
NC_000011.9:g.44219552T>G , CM000673.1:g.44219552T>G	GRCh37
NC_000011.8:g.44176128T>G	NCBI36
NG_007560.1:g.107454T>G , LRG_494:g.107454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1479T>G	ENSP00000342656.3:p.Asn493Lys
ENST00000395673.8:c.1479T>G	ENSP00000379032.4:p.Asn493Lys
ENST00000682359.1:c.1245T>G	ENSP00000508226.1:p.Asn415Lys
ENST00000682711.1:c.-148T>G	ENSP00000506803.1:n.-148T>G
ENST00000682815.1:c.*439T>G	ENSP00000507234.1:n.*439T>G
ENST00000682947.1:n.1480-8791T>G
ENST00000682993.1:c.1479T>G	ENSP00000507580.1:p.Asn493Lys
ENST00000683000.1:c.1479T>G	ENSP00000508361.1:p.Asn493Lys
ENST00000683299.1:n.1896T>G
ENST00000683870.1:c.*173T>G	ENSP00000507922.1:n.*173T>G
ENST00000683881.1:n.4040T>G
ENST00000684039.1:c.1306-8791T>G	ENSP00000507677.1:n.1306-8791T>G
ENST00000684124.1:c.*371T>G	ENSP00000508332.1:n.*371T>G
ENST00000684533.1:c.1143T>G	ENSP00000507915.1:p.Asn381Lys
ENST00000533608.7:c.1479T>G MANE Select	ENSP00000431173.2:p.Asn493Lys
ENST00000343631.3:c.1479T>G	ENSP00000342656.3:p.Asn493Lys
ENST00000358681.8:c.1509T>G	ENSP00000351509.4:p.Asn503Lys
ENST00000395673.7:c.1578T>G	ENSP00000379032.3:p.Asn526Lys
ENST00000531161.5:n.483-8791T>G
ENST00000533608.5:c.1479T>G	ENSP00000431173.1:p.Asn493Lys
ENST00000534048.1:n.402T>G
NM_000401.3:c.1578T>G , LRG_494t1:c.1578T>G	NP_000392.3:p.Asn526Lys
NM_001178083.1:c.1509T>G	NP_001171554.1:p.Asn503Lys
NM_207122.1:c.1479T>G , LRG_494t2:c.1479T>G	NP_997005.1:p.Asn493Lys
XM_011519950.1:c.1617T>G	XP_011518252.1:p.Asn539Lys
XM_011519951.1:c.1518T>G	XP_011518253.1:p.Asn506Lys
NM_001178083.2:c.1509T>G	NP_001171554.1:p.Asn503Lys
NM_207122.2:c.1479T>G MANE Select	NP_997005.1:p.Asn493Lys
NM_001178083.3:c.1509T>G	NP_001171554.1:p.Asn503Lys
NM_001389628.1:c.1479T>G	NP_001376557.1:p.Asn493Lys
NM_001389630.1:c.1479T>G	NP_001376559.1:p.Asn493Lys