Canonical Allele Identifier: CA221467792

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1265814
• ClinVar RCV Id: RCV001675110
• dbSNP Id: rs200495080
• gnomAD v2: 11-44146256-C-CG
• gnomAD v3: 11-44124706-C-CG
• gnomAD v4: 11-44124706-C-CG
• MyVariant Identifiers: chr11:g.44146256_44146257insG (hg19) ; chr11:g.44124706_44124707insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124706_44124707insG , CM000673.2:g.44124706_44124707insG	GRCh38
NC_000011.9:g.44146256_44146257insG , CM000673.1:g.44146256_44146257insG	GRCh37
NC_000011.8:g.44102832_44102833insG	NCBI36
NG_007560.1:g.34158_34159insG , LRG_494:g.34158_34159insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.744-83_744-82insG	ENSP00000342656.3:n.744-83_744-82insG
ENST00000395673.8:c.744-83_744-82insG	ENSP00000379032.4:n.744-83_744-82insG
ENST00000531161.6:n.903-83_903-82insG
ENST00000682359.1:c.744-83_744-82insG	ENSP00000508226.1:n.744-83_744-82insG
ENST00000682711.1:c.-544+28854_-544+28855insG	ENSP00000506803.1:n.-544+28854_-544+28855insG
ENST00000682815.1:c.744-83_744-82insG	ENSP00000507234.1:n.744-83_744-82insG
ENST00000682947.1:n.918-83_918-82insG
ENST00000682993.1:c.744-83_744-82insG	ENSP00000507580.1:n.744-83_744-82insG
ENST00000683000.1:c.744-83_744-82insG	ENSP00000508361.1:n.744-83_744-82insG
ENST00000683299.1:n.1161-83_1161-82insG
ENST00000683870.1:c.744-83_744-82insG	ENSP00000507922.1:n.744-83_744-82insG
ENST00000683881.1:n.3305-83_3305-82insG
ENST00000684039.1:c.744-83_744-82insG	ENSP00000507677.1:n.744-83_744-82insG
ENST00000684124.1:c.744-83_744-82insG	ENSP00000508332.1:n.744-83_744-82insG
ENST00000684533.1:c.744-5339_744-5338insG	ENSP00000507915.1:n.744-5339_744-5338insG
ENST00000533608.7:c.744-83_744-82insG MANE Select	ENSP00000431173.2:n.744-83_744-82insG
ENST00000343631.3:c.744-83_744-82insG	ENSP00000342656.3:n.744-83_744-82insG
ENST00000358681.8:c.744-83_744-82insG	ENSP00000351509.4:n.744-83_744-82insG
ENST00000395673.7:c.843-83_843-82insG	ENSP00000379032.3:n.843-83_843-82insG
ENST00000533608.5:c.744-83_744-82insG	ENSP00000431173.1:n.744-83_744-82insG
NM_000401.3:c.843-83_843-82insG , LRG_494t1:c.843-83_843-82insG	NP_000392.3:n.843-83_843-82insG
NM_001178083.1:c.744-83_744-82insG	NP_001171554.1:n.744-83_744-82insG
NM_207122.1:c.744-83_744-82insG , LRG_494t2:c.744-83_744-82insG	NP_997005.1:n.744-83_744-82insG
XM_011519950.1:c.882-83_882-82insG	XP_011518252.1:n.882-83_882-82insG
XM_011519951.1:c.783-83_783-82insG	XP_011518253.1:n.783-83_783-82insG
XM_024448383.1:c.882-83_882-82insG	XP_024304151.1:n.882-83_882-82insG
NM_001178083.2:c.744-83_744-82insG	NP_001171554.1:n.744-83_744-82insG
NM_207122.2:c.744-83_744-82insG MANE Select	NP_997005.1:n.744-83_744-82insG
NM_001178083.3:c.744-83_744-82insG	NP_001171554.1:n.744-83_744-82insG
NM_001389628.1:c.744-83_744-82insG	NP_001376557.1:n.744-83_744-82insG
NM_001389630.1:c.744-83_744-82insG	NP_001376559.1:n.744-83_744-82insG