Canonical Allele Identifier: CA5954805

Gene: EXT2

Linked Data

• dbSNP Id: rs754124170
• ExAC: 11:44129277 C / T
• gnomAD v2: 11-44129277-C-T
• gnomAD v4: 11-44107727-C-T
• MyVariant Identifiers: chr11:g.44129277C>T (hg19) ; chr11:g.44107727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107727C>T , CM000673.2:g.44107727C>T	GRCh38
NC_000011.9:g.44129277C>T , CM000673.1:g.44129277C>T	GRCh37
NC_000011.8:g.44085853C>T	NCBI36
NG_007560.1:g.17179C>T , LRG_494:g.17179C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.15C>T	ENSP00000342656.3:p.Val5=
ENST00000395673.8:c.15C>T	ENSP00000379032.4:p.Val5=
ENST00000531161.6:n.174C>T
ENST00000682359.1:c.15C>T	ENSP00000508226.1:p.Val5=
ENST00000682711.1:c.-544+11875C>T	ENSP00000506803.1:n.-544+11875C>T
ENST00000682815.1:c.15C>T	ENSP00000507234.1:p.Val5=
ENST00000682947.1:n.189C>T
ENST00000682993.1:c.15C>T	ENSP00000507580.1:p.Val5=
ENST00000683000.1:c.15C>T	ENSP00000508361.1:p.Val5=
ENST00000683299.1:n.432C>T
ENST00000683870.1:c.15C>T	ENSP00000507922.1:p.Val5=
ENST00000683881.1:n.2576C>T
ENST00000684039.1:c.15C>T	ENSP00000507677.1:p.Val5=
ENST00000684124.1:c.15C>T	ENSP00000508332.1:p.Val5=
ENST00000684533.1:c.15C>T	ENSP00000507915.1:p.Val5=
ENST00000533608.7:c.15C>T MANE Select	ENSP00000431173.2:p.Val5=
ENST00000343631.3:c.15C>T	ENSP00000342656.3:p.Val5=
ENST00000358681.8:c.15C>T	ENSP00000351509.4:p.Val5=
ENST00000395673.7:c.114C>T	ENSP00000379032.3:p.Val38=
ENST00000527014.1:c.15C>T	ENSP00000434716.1:p.Val5=
ENST00000532479.1:c.15C>T	ENSP00000433827.1:p.Val5=
ENST00000533608.5:c.15C>T	ENSP00000431173.1:p.Val5=
NM_000401.3:c.114C>T , LRG_494t1:c.114C>T	NP_000392.3:p.Val38=
NM_001178083.1:c.15C>T	NP_001171554.1:p.Val5=
NM_207122.1:c.15C>T , LRG_494t2:c.15C>T	NP_997005.1:p.Val5=
XM_011519950.1:c.153C>T	XP_011518252.1:p.Val51=
XM_011519951.1:c.54C>T	XP_011518253.1:p.Val18=
XM_024448383.1:c.153C>T	XP_024304151.1:p.Val51=
NM_001178083.2:c.15C>T	NP_001171554.1:p.Val5=
NM_207122.2:c.15C>T MANE Select	NP_997005.1:p.Val5=
NM_001178083.3:c.15C>T	NP_001171554.1:p.Val5=
NM_001389628.1:c.15C>T	NP_001376557.1:p.Val5=
NM_001389630.1:c.15C>T	NP_001376559.1:p.Val5=