Canonical Allele Identifier: CA380180234

Gene: EXT2

Linked Data

• ClinVar Variation Id: 2633014
• ClinVar RCV Id: RCV003391481
• MyVariant Identifiers: chr11:g.44129647G>T (hg19) ; chr11:g.44108097G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108097G>T , CM000673.2:g.44108097G>T	GRCh38
NC_000011.9:g.44129647G>T , CM000673.1:g.44129647G>T	GRCh37
NC_000011.8:g.44086223G>T	NCBI36
NG_007560.1:g.17549G>T , LRG_494:g.17549G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.385G>T	ENSP00000342656.3:p.Glu129Ter
ENST00000395673.8:c.385G>T	ENSP00000379032.4:p.Glu129Ter
ENST00000531161.6:n.544G>T
ENST00000682359.1:c.385G>T	ENSP00000508226.1:p.Glu129Ter
ENST00000682711.1:c.-544+12245G>T	ENSP00000506803.1:n.-544+12245G>T
ENST00000682815.1:c.385G>T	ENSP00000507234.1:p.Glu129Ter
ENST00000682947.1:n.559G>T
ENST00000682993.1:c.385G>T	ENSP00000507580.1:p.Glu129Ter
ENST00000683000.1:c.385G>T	ENSP00000508361.1:p.Glu129Ter
ENST00000683299.1:n.802G>T
ENST00000683870.1:c.385G>T	ENSP00000507922.1:p.Glu129Ter
ENST00000683881.1:n.2946G>T
ENST00000684039.1:c.385G>T	ENSP00000507677.1:p.Glu129Ter
ENST00000684124.1:c.385G>T	ENSP00000508332.1:p.Glu129Ter
ENST00000684533.1:c.385G>T	ENSP00000507915.1:p.Glu129Ter
ENST00000533608.7:c.385G>T MANE Select	ENSP00000431173.2:p.Glu129Ter
ENST00000343631.3:c.385G>T	ENSP00000342656.3:p.Glu129Ter
ENST00000358681.8:c.385G>T	ENSP00000351509.4:p.Glu129Ter
ENST00000395673.7:c.484G>T	ENSP00000379032.3:p.Glu162Ter
ENST00000529186.1:n.83G>T
ENST00000533608.5:c.385G>T	ENSP00000431173.1:p.Glu129Ter
NM_000401.3:c.484G>T , LRG_494t1:c.484G>T	NP_000392.3:p.Glu162Ter
NM_001178083.1:c.385G>T	NP_001171554.1:p.Glu129Ter
NM_207122.1:c.385G>T , LRG_494t2:c.385G>T	NP_997005.1:p.Glu129Ter
XM_011519950.1:c.523G>T	XP_011518252.1:p.Glu175Ter
XM_011519951.1:c.424G>T	XP_011518253.1:p.Glu142Ter
XM_024448383.1:c.523G>T	XP_024304151.1:p.Glu175Ter
NM_001178083.2:c.385G>T	NP_001171554.1:p.Glu129Ter
NM_207122.2:c.385G>T MANE Select	NP_997005.1:p.Glu129Ter
NM_001178083.3:c.385G>T	NP_001171554.1:p.Glu129Ter
NM_001389628.1:c.385G>T	NP_001376557.1:p.Glu129Ter
NM_001389630.1:c.385G>T	NP_001376559.1:p.Glu129Ter