Canonical Allele Identifier: CA380179429

Gene: EXT2

Linked Data

• dbSNP Id: rs527624522
• MyVariant Identifiers: chr11:g.44129273C>G (hg19) ; chr11:g.44107723C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107723C>G , CM000673.2:g.44107723C>G	GRCh38
NC_000011.9:g.44129273C>G , CM000673.1:g.44129273C>G	GRCh37
NC_000011.8:g.44085849C>G	NCBI36
NG_007560.1:g.17175C>G , LRG_494:g.17175C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.11C>G	ENSP00000342656.3:p.Ser4Trp
ENST00000395673.8:c.11C>G	ENSP00000379032.4:p.Ser4Trp
ENST00000531161.6:n.170C>G
ENST00000682359.1:c.11C>G	ENSP00000508226.1:p.Ser4Trp
ENST00000682711.1:c.-544+11871C>G	ENSP00000506803.1:n.-544+11871C>G
ENST00000682815.1:c.11C>G	ENSP00000507234.1:p.Ser4Trp
ENST00000682947.1:n.185C>G
ENST00000682993.1:c.11C>G	ENSP00000507580.1:p.Ser4Trp
ENST00000683000.1:c.11C>G	ENSP00000508361.1:p.Ser4Trp
ENST00000683299.1:n.428C>G
ENST00000683870.1:c.11C>G	ENSP00000507922.1:p.Ser4Trp
ENST00000683881.1:n.2572C>G
ENST00000684039.1:c.11C>G	ENSP00000507677.1:p.Ser4Trp
ENST00000684124.1:c.11C>G	ENSP00000508332.1:p.Ser4Trp
ENST00000684533.1:c.11C>G	ENSP00000507915.1:p.Ser4Trp
ENST00000533608.7:c.11C>G MANE Select	ENSP00000431173.2:p.Ser4Trp
ENST00000343631.3:c.11C>G	ENSP00000342656.3:p.Ser4Trp
ENST00000358681.8:c.11C>G	ENSP00000351509.4:p.Ser4Trp
ENST00000395673.7:c.110C>G	ENSP00000379032.3:p.Ser37Trp
ENST00000527014.1:c.11C>G	ENSP00000434716.1:p.Ser4Trp
ENST00000532479.1:c.11C>G	ENSP00000433827.1:p.Ser4Trp
ENST00000533608.5:c.11C>G	ENSP00000431173.1:p.Ser4Trp
NM_000401.3:c.110C>G , LRG_494t1:c.110C>G	NP_000392.3:p.Ser37Trp
NM_001178083.1:c.11C>G	NP_001171554.1:p.Ser4Trp
NM_207122.1:c.11C>G , LRG_494t2:c.11C>G	NP_997005.1:p.Ser4Trp
XM_011519950.1:c.149C>G	XP_011518252.1:p.Ser50Trp
XM_011519951.1:c.50C>G	XP_011518253.1:p.Ser17Trp
XM_024448383.1:c.149C>G	XP_024304151.1:p.Ser50Trp
NM_001178083.2:c.11C>G	NP_001171554.1:p.Ser4Trp
NM_207122.2:c.11C>G MANE Select	NP_997005.1:p.Ser4Trp
NM_001178083.3:c.11C>G	NP_001171554.1:p.Ser4Trp
NM_001389628.1:c.11C>G	NP_001376557.1:p.Ser4Trp
NM_001389630.1:c.11C>G	NP_001376559.1:p.Ser4Trp