Canonical Allele Identifier: CA380168813

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1963330
• ClinVar RCV Id: RCV002711087
• MyVariant Identifiers: chr11:g.44148382T>C (hg19) ; chr11:g.44126832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126832T>C , CM000673.2:g.44126832T>C	GRCh38
NC_000011.9:g.44148382T>C , CM000673.1:g.44148382T>C	GRCh37
NC_000011.8:g.44104958T>C	NCBI36
NG_007560.1:g.36284T>C , LRG_494:g.36284T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.956T>C	ENSP00000342656.3:p.Val319Ala
ENST00000395673.8:c.956T>C	ENSP00000379032.4:p.Val319Ala
ENST00000531161.6:n.1115T>C
ENST00000682359.1:c.939+1848T>C	ENSP00000508226.1:n.939+1848T>C
ENST00000682711.1:c.-544+30980T>C	ENSP00000506803.1:n.-544+30980T>C
ENST00000682815.1:c.956T>C	ENSP00000507234.1:p.Val319Ala
ENST00000682947.1:n.1130T>C
ENST00000682993.1:c.956T>C	ENSP00000507580.1:p.Val319Ala
ENST00000683000.1:c.956T>C	ENSP00000508361.1:p.Val319Ala
ENST00000683299.1:n.1373T>C
ENST00000683870.1:c.956T>C	ENSP00000507922.1:p.Val319Ala
ENST00000683881.1:n.3517T>C
ENST00000684039.1:c.956T>C	ENSP00000507677.1:p.Val319Ala
ENST00000684124.1:c.956T>C	ENSP00000508332.1:p.Val319Ala
ENST00000684533.1:c.744-3213T>C	ENSP00000507915.1:n.744-3213T>C
ENST00000533608.7:c.956T>C MANE Select	ENSP00000431173.2:p.Val319Ala
ENST00000343631.3:c.956T>C	ENSP00000342656.3:p.Val319Ala
ENST00000358681.8:c.956T>C	ENSP00000351509.4:p.Val319Ala
ENST00000395673.7:c.1055T>C	ENSP00000379032.3:p.Val352Ala
ENST00000531161.5:n.133T>C
ENST00000533608.5:c.956T>C	ENSP00000431173.1:p.Val319Ala
NM_000401.3:c.1055T>C , LRG_494t1:c.1055T>C	NP_000392.3:p.Val352Ala
NM_001178083.1:c.956T>C	NP_001171554.1:p.Val319Ala
NM_207122.1:c.956T>C , LRG_494t2:c.956T>C	NP_997005.1:p.Val319Ala
XM_011519950.1:c.1094T>C	XP_011518252.1:p.Val365Ala
XM_011519951.1:c.995T>C	XP_011518253.1:p.Val332Ala
XM_024448383.1:c.1094T>C	XP_024304151.1:p.Val365Ala
NM_001178083.2:c.956T>C	NP_001171554.1:p.Val319Ala
NM_207122.2:c.956T>C MANE Select	NP_997005.1:p.Val319Ala
NM_001178083.3:c.956T>C	NP_001171554.1:p.Val319Ala
NM_001389628.1:c.956T>C	NP_001376557.1:p.Val319Ala
NM_001389630.1:c.956T>C	NP_001376559.1:p.Val319Ala