Canonical Allele Identifier: CA2573146321

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1417949
• ClinVar RCV Id: RCV001940302
• dbSNP Id: rs2135020654

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126889del , CM000673.2:g.44126889del	GRCh38
NC_000011.9:g.44148439del , CM000673.1:g.44148439del	GRCh37
NC_000011.8:g.44105015del	NCBI36
NG_007560.1:g.36341del , LRG_494:g.36341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1013del	ENSP00000342656.3:p.Gly338AlafsTer?
ENST00000395673.8:c.1013del	ENSP00000379032.4:p.Gly338AlafsTer?
ENST00000531161.6:n.1172del
ENST00000682359.1:c.939+1905del	ENSP00000508226.1:n.939+1905del
ENST00000682711.1:c.-544+31037del	ENSP00000506803.1:n.-544+31037del
ENST00000682815.1:c.1013del	ENSP00000507234.1:p.Gly338AlafsTer?
ENST00000682947.1:n.1187del
ENST00000682993.1:c.1013del	ENSP00000507580.1:p.Gly338AlafsTer?
ENST00000683000.1:c.1013del	ENSP00000508361.1:p.Gly338AlafsTer?
ENST00000683299.1:n.1430del
ENST00000683870.1:c.1013del	ENSP00000507922.1:p.Gly338AlafsTer?
ENST00000683881.1:n.3574del
ENST00000684039.1:c.1013del	ENSP00000507677.1:p.Gly338AlafsTer?
ENST00000684124.1:c.1013del	ENSP00000508332.1:p.Gly338AlafsTer?
ENST00000684533.1:c.744-3156del	ENSP00000507915.1:n.744-3156del
ENST00000533608.7:c.1013del MANE Select	ENSP00000431173.2:p.Gly338AlafsTer?
ENST00000343631.3:c.1013del	ENSP00000342656.3:p.Gly338AlafsTer?
ENST00000358681.8:c.1013del	ENSP00000351509.4:p.Gly338AlafsTer?
ENST00000395673.7:c.1112del	ENSP00000379032.3:p.Gly371AlafsTer?
ENST00000531161.5:n.190del
ENST00000533608.5:c.1013del	ENSP00000431173.1:p.Gly338AlafsTer?
NM_000401.3:c.1112del , LRG_494t1:c.1112del	NP_000392.3:p.Gly371AlafsTer?
NM_001178083.1:c.1013del	NP_001171554.1:p.Gly338AlafsTer?
NM_207122.1:c.1013del , LRG_494t2:c.1013del	NP_997005.1:p.Gly338AlafsTer?
XM_011519950.1:c.1151del	XP_011518252.1:p.Gly384AlafsTer?
XM_011519951.1:c.1052del	XP_011518253.1:p.Gly351AlafsTer?
XM_024448383.1:c.1151del	XP_024304151.1:p.Gly384AlafsTer?
NM_001178083.2:c.1013del	NP_001171554.1:p.Gly338AlafsTer?
NM_207122.2:c.1013del MANE Select	NP_997005.1:p.Gly338AlafsTer?
NM_001178083.3:c.1013del	NP_001171554.1:p.Gly338AlafsTer?
NM_001389628.1:c.1013del	NP_001376557.1:p.Gly338AlafsTer?
NM_001389630.1:c.1013del	NP_001376559.1:p.Gly338AlafsTer?