Canonical Allele Identifier: CA380167234

Gene: EXT2

Linked Data

• gnomAD v4: 11-44124883-G-A
• MyVariant Identifiers: chr11:g.44146433G>A (hg19) ; chr11:g.44124883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124883G>A , CM000673.2:g.44124883G>A	GRCh38
NC_000011.9:g.44146433G>A , CM000673.1:g.44146433G>A	GRCh37
NC_000011.8:g.44103009G>A	NCBI36
NG_007560.1:g.34335G>A , LRG_494:g.34335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.838G>A	ENSP00000342656.3:p.Val280Met
ENST00000395673.8:c.838G>A	ENSP00000379032.4:p.Val280Met
ENST00000531161.6:n.997G>A
ENST00000682359.1:c.838G>A	ENSP00000508226.1:p.Val280Met
ENST00000682711.1:c.-544+29031G>A	ENSP00000506803.1:n.-544+29031G>A
ENST00000682815.1:c.838G>A	ENSP00000507234.1:p.Val280Met
ENST00000682947.1:n.1012G>A
ENST00000682993.1:c.838G>A	ENSP00000507580.1:p.Val280Met
ENST00000683000.1:c.838G>A	ENSP00000508361.1:p.Val280Met
ENST00000683299.1:n.1255G>A
ENST00000683870.1:c.838G>A	ENSP00000507922.1:p.Val280Met
ENST00000683881.1:n.3399G>A
ENST00000684039.1:c.838G>A	ENSP00000507677.1:p.Val280Met
ENST00000684124.1:c.838G>A	ENSP00000508332.1:p.Val280Met
ENST00000684533.1:c.744-5162G>A	ENSP00000507915.1:n.744-5162G>A
ENST00000533608.7:c.838G>A MANE Select	ENSP00000431173.2:p.Val280Met
ENST00000343631.3:c.838G>A	ENSP00000342656.3:p.Val280Met
ENST00000358681.8:c.838G>A	ENSP00000351509.4:p.Val280Met
ENST00000395673.7:c.937G>A	ENSP00000379032.3:p.Val313Met
ENST00000531161.5:n.15G>A
ENST00000533608.5:c.838G>A	ENSP00000431173.1:p.Val280Met
NM_000401.3:c.937G>A , LRG_494t1:c.937G>A	NP_000392.3:p.Val313Met
NM_001178083.1:c.838G>A	NP_001171554.1:p.Val280Met
NM_207122.1:c.838G>A , LRG_494t2:c.838G>A	NP_997005.1:p.Val280Met
XM_011519950.1:c.976G>A	XP_011518252.1:p.Val326Met
XM_011519951.1:c.877G>A	XP_011518253.1:p.Val293Met
XM_024448383.1:c.976G>A	XP_024304151.1:p.Val326Met
NM_001178083.2:c.838G>A	NP_001171554.1:p.Val280Met
NM_207122.2:c.838G>A MANE Select	NP_997005.1:p.Val280Met
NM_001178083.3:c.838G>A	NP_001171554.1:p.Val280Met
NM_001389628.1:c.838G>A	NP_001376557.1:p.Val280Met
NM_001389630.1:c.838G>A	NP_001376559.1:p.Val280Met