Canonical Allele Identifier: CA474035145

Gene: EXT2

Linked Data

• ClinVar Variation Id: 2058981
• ClinVar RCV Id: RCV002933501
• dbSNP Id: rs767802942
• gnomAD v4: 11-44108033-T-C
• MyVariant Identifiers: chr11:g.44129583T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108033T>C , CM000673.2:g.44108033T>C	GRCh38
NC_000011.9:g.44129583T>C , CM000673.1:g.44129583T>C	GRCh37
NC_000011.8:g.44086159T>C	NCBI36
NG_007560.1:g.17485T>C , LRG_494:g.17485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.321T>C	ENSP00000342656.3:p.Tyr107=
ENST00000395673.8:c.321T>C	ENSP00000379032.4:p.Tyr107=
ENST00000531161.6:n.480T>C
ENST00000682359.1:c.321T>C	ENSP00000508226.1:p.Tyr107=
ENST00000682711.1:c.-544+12181T>C	ENSP00000506803.1:n.-544+12181T>C
ENST00000682815.1:c.321T>C	ENSP00000507234.1:p.Tyr107=
ENST00000682947.1:n.495T>C
ENST00000682993.1:c.321T>C	ENSP00000507580.1:p.Tyr107=
ENST00000683000.1:c.321T>C	ENSP00000508361.1:p.Tyr107=
ENST00000683299.1:n.738T>C
ENST00000683870.1:c.321T>C	ENSP00000507922.1:p.Tyr107=
ENST00000683881.1:n.2882T>C
ENST00000684039.1:c.321T>C	ENSP00000507677.1:p.Tyr107=
ENST00000684124.1:c.321T>C	ENSP00000508332.1:p.Tyr107=
ENST00000684533.1:c.321T>C	ENSP00000507915.1:p.Tyr107=
ENST00000533608.7:c.321T>C MANE Select	ENSP00000431173.2:p.Tyr107=
ENST00000343631.3:c.321T>C	ENSP00000342656.3:p.Tyr107=
ENST00000358681.8:c.321T>C	ENSP00000351509.4:p.Tyr107=
ENST00000395673.7:c.420T>C	ENSP00000379032.3:p.Tyr140=
ENST00000527014.1:c.321T>C	ENSP00000434716.1:p.Tyr107=
ENST00000529186.1:n.19T>C
ENST00000533608.5:c.321T>C	ENSP00000431173.1:p.Tyr107=
NM_000401.3:c.420T>C , LRG_494t1:c.420T>C	NP_000392.3:p.Tyr140=
NM_001178083.1:c.321T>C	NP_001171554.1:p.Tyr107=
NM_207122.1:c.321T>C , LRG_494t2:c.321T>C	NP_997005.1:p.Tyr107=
XM_011519950.1:c.459T>C	XP_011518252.1:p.Tyr153=
XM_011519951.1:c.360T>C	XP_011518253.1:p.Tyr120=
XM_024448383.1:c.459T>C	XP_024304151.1:p.Tyr153=
NM_001178083.2:c.321T>C	NP_001171554.1:p.Tyr107=
NM_207122.2:c.321T>C MANE Select	NP_997005.1:p.Tyr107=
NM_001178083.3:c.321T>C	NP_001171554.1:p.Tyr107=
NM_001389628.1:c.321T>C	NP_001376557.1:p.Tyr107=
NM_001389630.1:c.321T>C	NP_001376559.1:p.Tyr107=