Canonical Allele Identifier: CA380168793

Gene: EXT2

Linked Data

• MyVariant Identifiers: chr11:g.44148373C>A (hg19) ; chr11:g.44126823C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126823C>A , CM000673.2:g.44126823C>A	GRCh38
NC_000011.9:g.44148373C>A , CM000673.1:g.44148373C>A	GRCh37
NC_000011.8:g.44104949C>A	NCBI36
NG_007560.1:g.36275C>A , LRG_494:g.36275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.947C>A	ENSP00000342656.3:p.Thr316Asn
ENST00000395673.8:c.947C>A	ENSP00000379032.4:p.Thr316Asn
ENST00000531161.6:n.1106C>A
ENST00000682359.1:c.939+1839C>A	ENSP00000508226.1:n.939+1839C>A
ENST00000682711.1:c.-544+30971C>A	ENSP00000506803.1:n.-544+30971C>A
ENST00000682815.1:c.947C>A	ENSP00000507234.1:p.Thr316Asn
ENST00000682947.1:n.1121C>A
ENST00000682993.1:c.947C>A	ENSP00000507580.1:p.Thr316Asn
ENST00000683000.1:c.947C>A	ENSP00000508361.1:p.Thr316Asn
ENST00000683299.1:n.1364C>A
ENST00000683870.1:c.947C>A	ENSP00000507922.1:p.Thr316Asn
ENST00000683881.1:n.3508C>A
ENST00000684039.1:c.947C>A	ENSP00000507677.1:p.Thr316Asn
ENST00000684124.1:c.947C>A	ENSP00000508332.1:p.Thr316Asn
ENST00000684533.1:c.744-3222C>A	ENSP00000507915.1:n.744-3222C>A
ENST00000533608.7:c.947C>A MANE Select	ENSP00000431173.2:p.Thr316Asn
ENST00000343631.3:c.947C>A	ENSP00000342656.3:p.Thr316Asn
ENST00000358681.8:c.947C>A	ENSP00000351509.4:p.Thr316Asn
ENST00000395673.7:c.1046C>A	ENSP00000379032.3:p.Thr349Asn
ENST00000531161.5:n.124C>A
ENST00000533608.5:c.947C>A	ENSP00000431173.1:p.Thr316Asn
NM_000401.3:c.1046C>A , LRG_494t1:c.1046C>A	NP_000392.3:p.Thr349Asn
NM_001178083.1:c.947C>A	NP_001171554.1:p.Thr316Asn
NM_207122.1:c.947C>A , LRG_494t2:c.947C>A	NP_997005.1:p.Thr316Asn
XM_011519950.1:c.1085C>A	XP_011518252.1:p.Thr362Asn
XM_011519951.1:c.986C>A	XP_011518253.1:p.Thr329Asn
XM_024448383.1:c.1085C>A	XP_024304151.1:p.Thr362Asn
NM_001178083.2:c.947C>A	NP_001171554.1:p.Thr316Asn
NM_207122.2:c.947C>A MANE Select	NP_997005.1:p.Thr316Asn
NM_001178083.3:c.947C>A	NP_001171554.1:p.Thr316Asn
NM_001389628.1:c.947C>A	NP_001376557.1:p.Thr316Asn
NM_001389630.1:c.947C>A	NP_001376559.1:p.Thr316Asn