Canonical Allele Identifier: CA380168797

Gene: EXT2

Linked Data

• gnomAD v4: 11-44126825-T-C
• MyVariant Identifiers: chr11:g.44148375T>C (hg19) ; chr11:g.44126825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126825T>C , CM000673.2:g.44126825T>C	GRCh38
NC_000011.9:g.44148375T>C , CM000673.1:g.44148375T>C	GRCh37
NC_000011.8:g.44104951T>C	NCBI36
NG_007560.1:g.36277T>C , LRG_494:g.36277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.949T>C	ENSP00000342656.3:p.Phe317Leu
ENST00000395673.8:c.949T>C	ENSP00000379032.4:p.Phe317Leu
ENST00000531161.6:n.1108T>C
ENST00000682359.1:c.939+1841T>C	ENSP00000508226.1:n.939+1841T>C
ENST00000682711.1:c.-544+30973T>C	ENSP00000506803.1:n.-544+30973T>C
ENST00000682815.1:c.949T>C	ENSP00000507234.1:p.Phe317Leu
ENST00000682947.1:n.1123T>C
ENST00000682993.1:c.949T>C	ENSP00000507580.1:p.Phe317Leu
ENST00000683000.1:c.949T>C	ENSP00000508361.1:p.Phe317Leu
ENST00000683299.1:n.1366T>C
ENST00000683870.1:c.949T>C	ENSP00000507922.1:p.Phe317Leu
ENST00000683881.1:n.3510T>C
ENST00000684039.1:c.949T>C	ENSP00000507677.1:p.Phe317Leu
ENST00000684124.1:c.949T>C	ENSP00000508332.1:p.Phe317Leu
ENST00000684533.1:c.744-3220T>C	ENSP00000507915.1:n.744-3220T>C
ENST00000533608.7:c.949T>C MANE Select	ENSP00000431173.2:p.Phe317Leu
ENST00000343631.3:c.949T>C	ENSP00000342656.3:p.Phe317Leu
ENST00000358681.8:c.949T>C	ENSP00000351509.4:p.Phe317Leu
ENST00000395673.7:c.1048T>C	ENSP00000379032.3:p.Phe350Leu
ENST00000531161.5:n.126T>C
ENST00000533608.5:c.949T>C	ENSP00000431173.1:p.Phe317Leu
NM_000401.3:c.1048T>C , LRG_494t1:c.1048T>C	NP_000392.3:p.Phe350Leu
NM_001178083.1:c.949T>C	NP_001171554.1:p.Phe317Leu
NM_207122.1:c.949T>C , LRG_494t2:c.949T>C	NP_997005.1:p.Phe317Leu
XM_011519950.1:c.1087T>C	XP_011518252.1:p.Phe363Leu
XM_011519951.1:c.988T>C	XP_011518253.1:p.Phe330Leu
XM_024448383.1:c.1087T>C	XP_024304151.1:p.Phe363Leu
NM_001178083.2:c.949T>C	NP_001171554.1:p.Phe317Leu
NM_207122.2:c.949T>C MANE Select	NP_997005.1:p.Phe317Leu
NM_001178083.3:c.949T>C	NP_001171554.1:p.Phe317Leu
NM_001389628.1:c.949T>C	NP_001376557.1:p.Phe317Leu
NM_001389630.1:c.949T>C	NP_001376559.1:p.Phe317Leu