Canonical Allele Identifier: CA1967883489

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126853_44126854delinsTG , CM000673.2:g.44126853_44126854delinsTG	GRCh38
NC_000011.9:g.44148403_44148404delinsTG , CM000673.1:g.44148403_44148404delinsTG	GRCh37
NC_000011.8:g.44104979_44104980delinsTG	NCBI36
NG_007560.1:g.36305_36306delinsTG , LRG_494:g.36305_36306delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.977_978delinsTG	ENSP00000342656.3:p.Leu326=
ENST00000395673.8:c.977_978delinsTG	ENSP00000379032.4:p.Leu326=
ENST00000531161.6:n.1136_1137delinsTG
ENST00000682359.1:c.939+1869_939+1870delinsTG	ENSP00000508226.1:n.939+1869_939+1870delinsTG
ENST00000682711.1:c.-544+31001_-544+31002delinsTG	ENSP00000506803.1:n.-544+31001_-544+31002delinsTG
ENST00000682815.1:c.977_978delinsTG	ENSP00000507234.1:p.Leu326=
ENST00000682947.1:n.1151_1152delinsTG
ENST00000682993.1:c.977_978delinsTG	ENSP00000507580.1:p.Leu326=
ENST00000683000.1:c.977_978delinsTG	ENSP00000508361.1:p.Leu326=
ENST00000683299.1:n.1394_1395delinsTG
ENST00000683870.1:c.977_978delinsTG	ENSP00000507922.1:p.Leu326=
ENST00000683881.1:n.3538_3539delinsTG
ENST00000684039.1:c.977_978delinsTG	ENSP00000507677.1:p.Leu326=
ENST00000684124.1:c.977_978delinsTG	ENSP00000508332.1:p.Leu326=
ENST00000684533.1:c.744-3192_744-3191delinsTG	ENSP00000507915.1:n.744-3192_744-3191delinsTG
ENST00000533608.7:c.977_978delinsTG MANE Select	ENSP00000431173.2:p.Leu326=
ENST00000343631.3:c.977_978delinsTG	ENSP00000342656.3:p.Leu326=
ENST00000358681.8:c.977_978delinsTG	ENSP00000351509.4:p.Leu326=
ENST00000395673.7:c.1076_1077delinsTG	ENSP00000379032.3:p.Leu359=
ENST00000531161.5:n.154_155delinsTG
ENST00000533608.5:c.977_978delinsTG	ENSP00000431173.1:p.Leu326=
NM_000401.3:c.1076_1077delinsTG , LRG_494t1:c.1076_1077delinsTG	NP_000392.3:p.Leu359=
NM_001178083.1:c.977_978delinsTG	NP_001171554.1:p.Leu326=
NM_207122.1:c.977_978delinsTG , LRG_494t2:c.977_978delinsTG	NP_997005.1:p.Leu326=
XM_011519950.1:c.1115_1116delinsTG	XP_011518252.1:p.Leu372=
XM_011519951.1:c.1016_1017delinsTG	XP_011518253.1:p.Leu339=
XM_024448383.1:c.1115_1116delinsTG	XP_024304151.1:p.Leu372=
NM_001178083.2:c.977_978delinsTG	NP_001171554.1:p.Leu326=
NM_207122.2:c.977_978delinsTG MANE Select	NP_997005.1:p.Leu326=
NM_001178083.3:c.977_978delinsTG	NP_001171554.1:p.Leu326=
NM_001389628.1:c.977_978delinsTG	NP_001376557.1:p.Leu326=
NM_001389630.1:c.977_978delinsTG	NP_001376559.1:p.Leu326=