Canonical Allele Identifier: CA159161

Gene: EXT2

Linked Data

• ClinVar Variation Id: 134215
• ClinVar RCV Id: RCV000120888 ; RCV000763739 ; RCV000766600 ; RCV000795903
• dbSNP Id: rs141035971
• ExAC: 11:44148448 C / T
• gnomAD v2: 11-44148448-C-T
• gnomAD v3: 11-44126898-C-T
• gnomAD v4: 11-44126898-C-T
• COSMIC: COSM3731537 ; COSM3731538
• MyVariant Identifiers: chr11:g.44148448C>T (hg19) ; chr11:g.44126898C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126898C>T , CM000673.2:g.44126898C>T	GRCh38
NC_000011.9:g.44148448C>T , CM000673.1:g.44148448C>T	GRCh37
NC_000011.8:g.44105024C>T	NCBI36
NG_007560.1:g.36350C>T , LRG_494:g.36350C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.1022C>T	ENSP00000342656.3:p.Pro341Leu
ENST00000395673.8:c.1022C>T	ENSP00000379032.4:p.Pro341Leu
ENST00000531161.6:n.1181C>T
ENST00000682359.1:c.939+1914C>T	ENSP00000508226.1:n.939+1914C>T
ENST00000682711.1:c.-544+31046C>T	ENSP00000506803.1:n.-544+31046C>T
ENST00000682815.1:c.1022C>T	ENSP00000507234.1:p.Pro341Leu
ENST00000682947.1:n.1196C>T
ENST00000682993.1:c.1022C>T	ENSP00000507580.1:p.Pro341Leu
ENST00000683000.1:c.1022C>T	ENSP00000508361.1:p.Pro341Leu
ENST00000683299.1:n.1439C>T
ENST00000683870.1:c.1022C>T	ENSP00000507922.1:p.Pro341Leu
ENST00000683881.1:n.3583C>T
ENST00000684039.1:c.1022C>T	ENSP00000507677.1:p.Pro341Leu
ENST00000684124.1:c.1022C>T	ENSP00000508332.1:p.Pro341Leu
ENST00000684533.1:c.744-3147C>T	ENSP00000507915.1:n.744-3147C>T
ENST00000533608.7:c.1022C>T MANE Select	ENSP00000431173.2:p.Pro341Leu
ENST00000343631.3:c.1022C>T	ENSP00000342656.3:p.Pro341Leu
ENST00000358681.8:c.1022C>T	ENSP00000351509.4:p.Pro341Leu
ENST00000395673.7:c.1121C>T	ENSP00000379032.3:p.Pro374Leu
ENST00000531161.5:n.199C>T
ENST00000533608.5:c.1022C>T	ENSP00000431173.1:p.Pro341Leu
NM_000401.3:c.1121C>T , LRG_494t1:c.1121C>T	NP_000392.3:p.Pro374Leu
NM_001178083.1:c.1022C>T	NP_001171554.1:p.Pro341Leu
NM_207122.1:c.1022C>T , LRG_494t2:c.1022C>T	NP_997005.1:p.Pro341Leu
XM_011519950.1:c.1160C>T	XP_011518252.1:p.Pro387Leu
XM_011519951.1:c.1061C>T	XP_011518253.1:p.Pro354Leu
XM_024448383.1:c.1160C>T	XP_024304151.1:p.Pro387Leu
NM_001178083.2:c.1022C>T	NP_001171554.1:p.Pro341Leu
NM_207122.2:c.1022C>T MANE Select	NP_997005.1:p.Pro341Leu
NM_001178083.3:c.1022C>T	NP_001171554.1:p.Pro341Leu
NM_001389628.1:c.1022C>T	NP_001376557.1:p.Pro341Leu
NM_001389630.1:c.1022C>T	NP_001376559.1:p.Pro341Leu