Canonical Allele Identifier: CA2695213868

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126818_44126819insT , CM000673.2:g.44126818_44126819insT	GRCh38
NC_000011.9:g.44148368_44148369insT , CM000673.1:g.44148368_44148369insT	GRCh37
NC_000011.8:g.44104944_44104945insT	NCBI36
NG_007560.1:g.36270_36271insT , LRG_494:g.36270_36271insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.942_943insT	ENSP00000342656.3:p.Ala315CysfsTer?
ENST00000395673.8:c.942_943insT	ENSP00000379032.4:p.Ala315CysfsTer?
ENST00000531161.6:n.1101_1102insT
ENST00000682359.1:c.939+1834_939+1835insT	ENSP00000508226.1:n.939+1834_939+1835insT...
ENST00000682711.1:c.-544+30966_-544+30967insT	ENSP00000506803.1:n.-544+30966_-544+30967...
ENST00000682815.1:c.942_943insT	ENSP00000507234.1:p.Ala315CysfsTer?
ENST00000682947.1:n.1116_1117insT
ENST00000682993.1:c.942_943insT	ENSP00000507580.1:p.Ala315CysfsTer?
ENST00000683000.1:c.942_943insT	ENSP00000508361.1:p.Ala315CysfsTer?
ENST00000683299.1:n.1359_1360insT
ENST00000683870.1:c.942_943insT	ENSP00000507922.1:p.Ala315CysfsTer?
ENST00000683881.1:n.3503_3504insT
ENST00000684039.1:c.942_943insT	ENSP00000507677.1:p.Ala315CysfsTer?
ENST00000684124.1:c.942_943insT	ENSP00000508332.1:p.Ala315CysfsTer?
ENST00000684533.1:c.744-3227_744-3226insT	ENSP00000507915.1:n.744-3227_744-3226insT...
ENST00000533608.7:c.942_943insT MANE Select	ENSP00000431173.2:p.Ala315CysfsTer?
ENST00000343631.3:c.942_943insT	ENSP00000342656.3:p.Ala315CysfsTer?
ENST00000358681.8:c.942_943insT	ENSP00000351509.4:p.Ala315CysfsTer?
ENST00000395673.7:c.1041_1042insT	ENSP00000379032.3:p.Ala348CysfsTer?
ENST00000531161.5:n.119_120insT
ENST00000533608.5:c.942_943insT	ENSP00000431173.1:p.Ala315CysfsTer?
NM_000401.3:c.1041_1042insT , LRG_494t1:c.1041_1042insT	NP_000392.3:p.Ala348CysfsTer?
NM_001178083.1:c.942_943insT	NP_001171554.1:p.Ala315CysfsTer?
NM_207122.1:c.942_943insT , LRG_494t2:c.942_943insT	NP_997005.1:p.Ala315CysfsTer?
XM_011519950.1:c.1080_1081insT	XP_011518252.1:p.Ala361CysfsTer?
XM_011519951.1:c.981_982insT	XP_011518253.1:p.Ala328CysfsTer?
XM_024448383.1:c.1080_1081insT	XP_024304151.1:p.Ala361CysfsTer?
NM_001178083.2:c.942_943insT	NP_001171554.1:p.Ala315CysfsTer?
NM_207122.2:c.942_943insT MANE Select	NP_997005.1:p.Ala315CysfsTer?
NM_001178083.3:c.942_943insT	NP_001171554.1:p.Ala315CysfsTer?
NM_001389628.1:c.942_943insT	NP_001376557.1:p.Ala315CysfsTer?
NM_001389630.1:c.942_943insT	NP_001376559.1:p.Ala315CysfsTer?