Canonical Allele Identifier: CA10587118

Gene: EXT2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44231853G>C , CM000673.2:g.44231853G>C	GRCh38
NC_000011.9:g.44253403G>C , CM000673.1:g.44253403G>C	GRCh37
NC_000011.8:g.44209979G>C	NCBI36
NG_007560.1:g.141305G>C , LRG_494:g.141305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1663-500G>C	ENSP00000342656.3:n.1663-500G>C
ENST00000395673.8:c.1663-500G>C	ENSP00000379032.4:n.1663-500G>C
ENST00000682359.1:c.1429-500G>C	ENSP00000508226.1:n.1429-500G>C
ENST00000682711.1:c.37-500G>C	ENSP00000506803.1:n.37-500G>C
ENST00000682815.1:c.*623-500G>C	ENSP00000507234.1:n.*623-500G>C
ENST00000682947.1:n.1647-500G>C
ENST00000682993.1:c.1663-500G>C	ENSP00000507580.1:n.1663-500G>C
ENST00000683000.1:c.1663-500G>C	ENSP00000508361.1:n.1663-500G>C
ENST00000683204.1:n.1978-500G>C
ENST00000683299.1:n.2080-500G>C
ENST00000683870.1:c.*357-500G>C	ENSP00000507922.1:n.*357-500G>C
ENST00000683881.1:n.4224-500G>C
ENST00000684039.1:c.*135-500G>C	ENSP00000507677.1:n.*135-500G>C
ENST00000684124.1:c.*555-500G>C	ENSP00000508332.1:n.*555-500G>C
ENST00000684437.1:n.1511G>C
ENST00000684533.1:c.1327-500G>C	ENSP00000507915.1:n.1327-500G>C
ENST00000533608.7:c.1663-500G>C MANE Select	ENSP00000431173.2:n.1663-500G>C
ENST00000343631.3:c.1663-500G>C	ENSP00000342656.3:n.1663-500G>C
ENST00000358681.8:c.1693-500G>C	ENSP00000351509.4:n.1693-500G>C
ENST00000395673.7:c.1762-500G>C	ENSP00000379032.3:n.1762-500G>C
ENST00000528159.1:n.96-500G>C
ENST00000531161.5:n.650-500G>C
ENST00000533608.5:c.1663-500G>C	ENSP00000431173.1:n.1663-500G>C
NM_000401.3:c.1762-500G>C , LRG_494t1:c.1762-500G>C	NP_000392.3:n.1762-500G>C
NM_001178083.1:c.1693-500G>C	NP_001171554.1:n.1693-500G>C
NM_207122.1:c.1663-500G>C , LRG_494t2:c.1663-500G>C	NP_997005.1:n.1663-500G>C
XM_011519950.1:c.1801-500G>C	XP_011518252.1:n.1801-500G>C
XM_011519951.1:c.1702-500G>C	XP_011518253.1:n.1702-500G>C
NM_001178083.2:c.1693-500G>C	NP_001171554.1:n.1693-500G>C
NM_207122.2:c.1663-500G>C MANE Select	NP_997005.1:n.1663-500G>C
NM_001178083.3:c.1693-500G>C	NP_001171554.1:n.1693-500G>C
NM_001389628.1:c.1663-500G>C	NP_001376557.1:n.1663-500G>C
NM_001389630.1:c.1663-500G>C	NP_001376559.1:n.1663-500G>C