Canonical Allele Identifier: CA937445001

Gene: EXT2

Linked Data

• dbSNP Id: rs1954078670
• gnomAD v3: 11-44107826-TGC-T
• gnomAD v4: 11-44107826-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107827_44107828del , CM000673.2:g.44107827_44107828del	GRCh38
NC_000011.9:g.44129377_44129378del , CM000673.1:g.44129377_44129378del	GRCh37
NC_000011.8:g.44085953_44085954del	NCBI36
NG_007560.1:g.17279_17280del , LRG_494:g.17279_17280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.115_116del	ENSP00000342656.3:p.Ala39HisfsTer16
ENST00000395673.8:c.115_116del	ENSP00000379032.4:p.Ala39HisfsTer16
ENST00000531161.6:n.274_275del
ENST00000682359.1:c.115_116del	ENSP00000508226.1:p.Ala39HisfsTer16
ENST00000682711.1:c.-544+11975_-544+11976del	ENSP00000506803.1:n.-544+11975_-544+11976del
ENST00000682815.1:c.115_116del	ENSP00000507234.1:p.Ala39HisfsTer16
ENST00000682947.1:n.289_290del
ENST00000682993.1:c.115_116del	ENSP00000507580.1:p.Ala39HisfsTer16
ENST00000683000.1:c.115_116del	ENSP00000508361.1:p.Ala39HisfsTer16
ENST00000683299.1:n.532_533del
ENST00000683870.1:c.115_116del	ENSP00000507922.1:p.Ala39HisfsTer16
ENST00000683881.1:n.2676_2677del
ENST00000684039.1:c.115_116del	ENSP00000507677.1:p.Ala39HisfsTer16
ENST00000684124.1:c.115_116del	ENSP00000508332.1:p.Ala39HisfsTer16
ENST00000684533.1:c.115_116del	ENSP00000507915.1:p.Ala39HisfsTer16
ENST00000533608.7:c.115_116del MANE Select	ENSP00000431173.2:p.Ala39HisfsTer16
ENST00000343631.3:c.115_116del	ENSP00000342656.3:p.Ala39HisfsTer16
ENST00000358681.8:c.115_116del	ENSP00000351509.4:p.Ala39HisfsTer16
ENST00000395673.7:c.214_215del	ENSP00000379032.3:p.Ala72HisfsTer16
ENST00000527014.1:c.115_116del	ENSP00000434716.1:p.Ala39HisfsTer16
ENST00000532479.1:c.115_116del	ENSP00000433827.1:p.Ala39HisfsTer?
ENST00000533608.5:c.115_116del	ENSP00000431173.1:p.Ala39HisfsTer16
NM_000401.3:c.214_215del , LRG_494t1:c.214_215del	NP_000392.3:p.Ala72HisfsTer16
NM_001178083.1:c.115_116del	NP_001171554.1:p.Ala39HisfsTer16
NM_207122.1:c.115_116del , LRG_494t2:c.115_116del	NP_997005.1:p.Ala39HisfsTer16
XM_011519950.1:c.253_254del	XP_011518252.1:p.Ala85HisfsTer16
XM_011519951.1:c.154_155del	XP_011518253.1:p.Ala52HisfsTer16
XM_024448383.1:c.253_254del	XP_024304151.1:p.Ala85HisfsTer16
NM_001178083.2:c.115_116del	NP_001171554.1:p.Ala39HisfsTer16
NM_207122.2:c.115_116del MANE Select	NP_997005.1:p.Ala39HisfsTer16
NM_001178083.3:c.115_116del	NP_001171554.1:p.Ala39HisfsTer16
NM_001389628.1:c.115_116del	NP_001376557.1:p.Ala39HisfsTer16
NM_001389630.1:c.115_116del	NP_001376559.1:p.Ala39HisfsTer16