Canonical Allele Identifier: CA380169072

Gene: EXT2

Linked Data

• ClinVar Variation Id: 429216
• ClinVar RCV Id: RCV000493494
• dbSNP Id: rs1131691261
• MyVariant Identifiers: chr11:g.44148447C>A (hg19) ; chr11:g.44126897C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126897C>A , CM000673.2:g.44126897C>A	GRCh38
NC_000011.9:g.44148447C>A , CM000673.1:g.44148447C>A	GRCh37
NC_000011.8:g.44105023C>A	NCBI36
NG_007560.1:g.36349C>A , LRG_494:g.36349C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1021C>A	ENSP00000342656.3:p.Pro341Thr
ENST00000395673.8:c.1021C>A	ENSP00000379032.4:p.Pro341Thr
ENST00000531161.6:n.1180C>A
ENST00000682359.1:c.939+1913C>A	ENSP00000508226.1:n.939+1913C>A
ENST00000682711.1:c.-544+31045C>A	ENSP00000506803.1:n.-544+31045C>A
ENST00000682815.1:c.1021C>A	ENSP00000507234.1:p.Pro341Thr
ENST00000682947.1:n.1195C>A
ENST00000682993.1:c.1021C>A	ENSP00000507580.1:p.Pro341Thr
ENST00000683000.1:c.1021C>A	ENSP00000508361.1:p.Pro341Thr
ENST00000683299.1:n.1438C>A
ENST00000683870.1:c.1021C>A	ENSP00000507922.1:p.Pro341Thr
ENST00000683881.1:n.3582C>A
ENST00000684039.1:c.1021C>A	ENSP00000507677.1:p.Pro341Thr
ENST00000684124.1:c.1021C>A	ENSP00000508332.1:p.Pro341Thr
ENST00000684533.1:c.744-3148C>A	ENSP00000507915.1:n.744-3148C>A
ENST00000533608.7:c.1021C>A MANE Select	ENSP00000431173.2:p.Pro341Thr
ENST00000343631.3:c.1021C>A	ENSP00000342656.3:p.Pro341Thr
ENST00000358681.8:c.1021C>A	ENSP00000351509.4:p.Pro341Thr
ENST00000395673.7:c.1120C>A	ENSP00000379032.3:p.Pro374Thr
ENST00000531161.5:n.198C>A
ENST00000533608.5:c.1021C>A	ENSP00000431173.1:p.Pro341Thr
NM_000401.3:c.1120C>A , LRG_494t1:c.1120C>A	NP_000392.3:p.Pro374Thr
NM_001178083.1:c.1021C>A	NP_001171554.1:p.Pro341Thr
NM_207122.1:c.1021C>A , LRG_494t2:c.1021C>A	NP_997005.1:p.Pro341Thr
XM_011519950.1:c.1159C>A	XP_011518252.1:p.Pro387Thr
XM_011519951.1:c.1060C>A	XP_011518253.1:p.Pro354Thr
XM_024448383.1:c.1159C>A	XP_024304151.1:p.Pro387Thr
NM_001178083.2:c.1021C>A	NP_001171554.1:p.Pro341Thr
NM_207122.2:c.1021C>A MANE Select	NP_997005.1:p.Pro341Thr
NM_001178083.3:c.1021C>A	NP_001171554.1:p.Pro341Thr
NM_001389628.1:c.1021C>A	NP_001376557.1:p.Pro341Thr
NM_001389630.1:c.1021C>A	NP_001376559.1:p.Pro341Thr