Canonical Allele Identifier: CA5954891
Gene: EXT2 HGNC NCBI

Linked Data

dbSNP Id: rs746118281

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44108170T>C , CM000673.2:g.44108170T>C GRCh38
NC_000011.9:g.44129720T>C , CM000673.1:g.44129720T>C GRCh37
NC_000011.8:g.44086296T>C NCBI36
NG_007560.1:g.17622T>C , LRG_494:g.17622T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343631.4:c.458T>C ENSP00000342656.3:p.Phe153Ser
ENST00000395673.8:c.458T>C ENSP00000379032.4:p.Phe153Ser
ENST00000531161.6:n.617T>C
ENST00000682359.1:c.458T>C ENSP00000508226.1:p.Phe153Ser
ENST00000682711.1:c.-544+12318T>C ENSP00000506803.1:n.-544+12318T>C
ENST00000682815.1:c.458T>C ENSP00000507234.1:p.Phe153Ser
ENST00000682947.1:n.632T>C
ENST00000682993.1:c.458T>C ENSP00000507580.1:p.Phe153Ser
ENST00000683000.1:c.458T>C ENSP00000508361.1:p.Phe153Ser
ENST00000683299.1:n.875T>C
ENST00000683870.1:c.458T>C ENSP00000507922.1:p.Phe153Ser
ENST00000683881.1:n.3019T>C
ENST00000684039.1:c.458T>C ENSP00000507677.1:p.Phe153Ser
ENST00000684124.1:c.458T>C ENSP00000508332.1:p.Phe153Ser
ENST00000684533.1:c.458T>C ENSP00000507915.1:p.Phe153Ser
ENST00000533608.7:c.458T>C MANE Select ENSP00000431173.2:p.Phe153Ser
ENST00000343631.3:c.458T>C ENSP00000342656.3:p.Phe153Ser
ENST00000358681.8:c.458T>C ENSP00000351509.4:p.Phe153Ser
ENST00000395673.7:c.557T>C ENSP00000379032.3:p.Phe186Ser
ENST00000529186.1:n.156T>C
ENST00000533608.5:c.458T>C ENSP00000431173.1:p.Phe153Ser
NM_000401.3:c.557T>C , LRG_494t1:c.557T>C NP_000392.3:p.Phe186Ser
NM_001178083.1:c.458T>C NP_001171554.1:p.Phe153Ser
NM_207122.1:c.458T>C , LRG_494t2:c.458T>C NP_997005.1:p.Phe153Ser
XM_011519950.1:c.596T>C XP_011518252.1:p.Phe199Ser
XM_011519951.1:c.497T>C XP_011518253.1:p.Phe166Ser
XM_024448383.1:c.596T>C XP_024304151.1:p.Phe199Ser
NM_001178083.2:c.458T>C NP_001171554.1:p.Phe153Ser
NM_207122.2:c.458T>C MANE Select NP_997005.1:p.Phe153Ser
NM_001178083.3:c.458T>C NP_001171554.1:p.Phe153Ser
NM_001389628.1:c.458T>C NP_001376557.1:p.Phe153Ser
NM_001389630.1:c.458T>C NP_001376559.1:p.Phe153Ser