Canonical Allele Identifier: CA5954990

Gene: EXT2

Linked Data

• dbSNP Id: rs200625314
• ExAC: 11:44146294 C / T
• gnomAD v2: 11-44146294-C-T
• gnomAD v3: 11-44124744-C-T
• gnomAD v4: 11-44124744-C-T
• MyVariant Identifiers: chr11:g.44146294C>T (hg19) ; chr11:g.44124744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124744C>T , CM000673.2:g.44124744C>T	GRCh38
NC_000011.9:g.44146294C>T , CM000673.1:g.44146294C>T	GRCh37
NC_000011.8:g.44102870C>T	NCBI36
NG_007560.1:g.34196C>T , LRG_494:g.34196C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.744-45C>T	ENSP00000342656.3:n.744-45C>T
ENST00000395673.8:c.744-45C>T	ENSP00000379032.4:n.744-45C>T
ENST00000531161.6:n.903-45C>T
ENST00000682359.1:c.744-45C>T	ENSP00000508226.1:n.744-45C>T
ENST00000682711.1:c.-544+28892C>T	ENSP00000506803.1:n.-544+28892C>T
ENST00000682815.1:c.744-45C>T	ENSP00000507234.1:n.744-45C>T
ENST00000682947.1:n.918-45C>T
ENST00000682993.1:c.744-45C>T	ENSP00000507580.1:n.744-45C>T
ENST00000683000.1:c.744-45C>T	ENSP00000508361.1:n.744-45C>T
ENST00000683299.1:n.1161-45C>T
ENST00000683870.1:c.744-45C>T	ENSP00000507922.1:n.744-45C>T
ENST00000683881.1:n.3305-45C>T
ENST00000684039.1:c.744-45C>T	ENSP00000507677.1:n.744-45C>T
ENST00000684124.1:c.744-45C>T	ENSP00000508332.1:n.744-45C>T
ENST00000684533.1:c.744-5301C>T	ENSP00000507915.1:n.744-5301C>T
ENST00000533608.7:c.744-45C>T MANE Select	ENSP00000431173.2:n.744-45C>T
ENST00000343631.3:c.744-45C>T	ENSP00000342656.3:n.744-45C>T
ENST00000358681.8:c.744-45C>T	ENSP00000351509.4:n.744-45C>T
ENST00000395673.7:c.843-45C>T	ENSP00000379032.3:n.843-45C>T
ENST00000533608.5:c.744-45C>T	ENSP00000431173.1:n.744-45C>T
NM_000401.3:c.843-45C>T , LRG_494t1:c.843-45C>T	NP_000392.3:n.843-45C>T
NM_001178083.1:c.744-45C>T	NP_001171554.1:n.744-45C>T
NM_207122.1:c.744-45C>T , LRG_494t2:c.744-45C>T	NP_997005.1:n.744-45C>T
XM_011519950.1:c.882-45C>T	XP_011518252.1:n.882-45C>T
XM_011519951.1:c.783-45C>T	XP_011518253.1:n.783-45C>T
XM_024448383.1:c.882-45C>T	XP_024304151.1:n.882-45C>T
NM_001178083.2:c.744-45C>T	NP_001171554.1:n.744-45C>T
NM_207122.2:c.744-45C>T MANE Select	NP_997005.1:n.744-45C>T
NM_001178083.3:c.744-45C>T	NP_001171554.1:n.744-45C>T
NM_001389628.1:c.744-45C>T	NP_001376557.1:n.744-45C>T
NM_001389630.1:c.744-45C>T	NP_001376559.1:n.744-45C>T