Canonical Allele Identifier: CA380166924

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1327092
• ClinVar RCV Id: RCV001788972
• dbSNP Id: rs2135014871
• MyVariant Identifiers: chr11:g.44146380A>G (hg19) ; chr11:g.44124830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124830A>G , CM000673.2:g.44124830A>G	GRCh38
NC_000011.9:g.44146380A>G , CM000673.1:g.44146380A>G	GRCh37
NC_000011.8:g.44102956A>G	NCBI36
NG_007560.1:g.34282A>G , LRG_494:g.34282A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.785A>G	ENSP00000342656.3:p.His262Arg
ENST00000395673.8:c.785A>G	ENSP00000379032.4:p.His262Arg
ENST00000531161.6:n.944A>G
ENST00000682359.1:c.785A>G	ENSP00000508226.1:p.His262Arg
ENST00000682711.1:c.-544+28978A>G	ENSP00000506803.1:n.-544+28978A>G
ENST00000682815.1:c.785A>G	ENSP00000507234.1:p.His262Arg
ENST00000682947.1:n.959A>G
ENST00000682993.1:c.785A>G	ENSP00000507580.1:p.His262Arg
ENST00000683000.1:c.785A>G	ENSP00000508361.1:p.His262Arg
ENST00000683299.1:n.1202A>G
ENST00000683870.1:c.785A>G	ENSP00000507922.1:p.His262Arg
ENST00000683881.1:n.3346A>G
ENST00000684039.1:c.785A>G	ENSP00000507677.1:p.His262Arg
ENST00000684124.1:c.785A>G	ENSP00000508332.1:p.His262Arg
ENST00000684533.1:c.744-5215A>G	ENSP00000507915.1:n.744-5215A>G
ENST00000533608.7:c.785A>G MANE Select	ENSP00000431173.2:p.His262Arg
ENST00000343631.3:c.785A>G	ENSP00000342656.3:p.His262Arg
ENST00000358681.8:c.785A>G	ENSP00000351509.4:p.His262Arg
ENST00000395673.7:c.884A>G	ENSP00000379032.3:p.His295Arg
ENST00000533608.5:c.785A>G	ENSP00000431173.1:p.His262Arg
NM_000401.3:c.884A>G , LRG_494t1:c.884A>G	NP_000392.3:p.His295Arg
NM_001178083.1:c.785A>G	NP_001171554.1:p.His262Arg
NM_207122.1:c.785A>G , LRG_494t2:c.785A>G	NP_997005.1:p.His262Arg
XM_011519950.1:c.923A>G	XP_011518252.1:p.His308Arg
XM_011519951.1:c.824A>G	XP_011518253.1:p.His275Arg
XM_024448383.1:c.923A>G	XP_024304151.1:p.His308Arg
NM_001178083.2:c.785A>G	NP_001171554.1:p.His262Arg
NM_207122.2:c.785A>G MANE Select	NP_997005.1:p.His262Arg
NM_001178083.3:c.785A>G	NP_001171554.1:p.His262Arg
NM_001389628.1:c.785A>G	NP_001376557.1:p.His262Arg
NM_001389630.1:c.785A>G	NP_001376559.1:p.His262Arg