Canonical Allele Identifier: CA278579

Gene: EXT2

Linked Data

• ClinVar Variation Id: 2477
• ClinVar RCV Id: RCV000002581 ; RCV003398422
• dbSNP Id: rs864309638
• MyVariant Identifiers: chr11:g.44146337A>C (hg19) ; chr11:g.44124787A>C (hg38)
• PubMed: PMID:19344451

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124787A>C , CM000673.2:g.44124787A>C	GRCh38
NC_000011.9:g.44146337A>C , CM000673.1:g.44146337A>C	GRCh37
NC_000011.8:g.44102913A>C	NCBI36
NG_007560.1:g.34239A>C , LRG_494:g.34239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.744-2A>C	ENSP00000342656.3:n.744-2A>C
ENST00000395673.8:c.744-2A>C	ENSP00000379032.4:n.744-2A>C
ENST00000531161.6:n.903-2A>C
ENST00000682359.1:c.744-2A>C	ENSP00000508226.1:n.744-2A>C
ENST00000682711.1:c.-544+28935A>C	ENSP00000506803.1:n.-544+28935A>C
ENST00000682815.1:c.744-2A>C	ENSP00000507234.1:n.744-2A>C
ENST00000682947.1:n.918-2A>C
ENST00000682993.1:c.744-2A>C	ENSP00000507580.1:n.744-2A>C
ENST00000683000.1:c.744-2A>C	ENSP00000508361.1:n.744-2A>C
ENST00000683299.1:n.1161-2A>C
ENST00000683870.1:c.744-2A>C	ENSP00000507922.1:n.744-2A>C
ENST00000683881.1:n.3305-2A>C
ENST00000684039.1:c.744-2A>C	ENSP00000507677.1:n.744-2A>C
ENST00000684124.1:c.744-2A>C	ENSP00000508332.1:n.744-2A>C
ENST00000684533.1:c.744-5258A>C	ENSP00000507915.1:n.744-5258A>C
ENST00000533608.7:c.744-2A>C MANE Select	ENSP00000431173.2:n.744-2A>C
ENST00000343631.3:c.744-2A>C	ENSP00000342656.3:n.744-2A>C
ENST00000358681.8:c.744-2A>C	ENSP00000351509.4:n.744-2A>C
ENST00000395673.7:c.843-2A>C	ENSP00000379032.3:n.843-2A>C
ENST00000533608.5:c.744-2A>C	ENSP00000431173.1:n.744-2A>C
NM_000401.3:c.843-2A>C , LRG_494t1:c.843-2A>C	NP_000392.3:n.843-2A>C
NM_001178083.1:c.744-2A>C	NP_001171554.1:n.744-2A>C
NM_207122.1:c.744-2A>C , LRG_494t2:c.744-2A>C	NP_997005.1:n.744-2A>C
XM_011519950.1:c.882-2A>C	XP_011518252.1:n.882-2A>C
XM_011519951.1:c.783-2A>C	XP_011518253.1:n.783-2A>C
XM_024448383.1:c.882-2A>C	XP_024304151.1:n.882-2A>C
NM_001178083.2:c.744-2A>C	NP_001171554.1:n.744-2A>C
NM_207122.2:c.744-2A>C MANE Select	NP_997005.1:n.744-2A>C
NM_001178083.3:c.744-2A>C	NP_001171554.1:n.744-2A>C
NM_001389628.1:c.744-2A>C	NP_001376557.1:n.744-2A>C
NM_001389630.1:c.744-2A>C	NP_001376559.1:n.744-2A>C