Canonical Allele Identifier: CA380168667

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1988474
• ClinVar RCV Id: RCV002781323
• MyVariant Identifiers: chr11:g.44146514G>C (hg19) ; chr11:g.44124964G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124964G>C , CM000673.2:g.44124964G>C	GRCh38
NC_000011.9:g.44146514G>C , CM000673.1:g.44146514G>C	GRCh37
NC_000011.8:g.44103090G>C	NCBI36
NG_007560.1:g.34416G>C , LRG_494:g.34416G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.919G>C	ENSP00000342656.3:p.Asp307His
ENST00000395673.8:c.919G>C	ENSP00000379032.4:p.Asp307His
ENST00000531161.6:n.1078G>C
ENST00000682359.1:c.919G>C	ENSP00000508226.1:p.Asp307His
ENST00000682711.1:c.-544+29112G>C	ENSP00000506803.1:n.-544+29112G>C
ENST00000682815.1:c.919G>C	ENSP00000507234.1:p.Asp307His
ENST00000682947.1:n.1093G>C
ENST00000682993.1:c.919G>C	ENSP00000507580.1:p.Asp307His
ENST00000683000.1:c.919G>C	ENSP00000508361.1:p.Asp307His
ENST00000683299.1:n.1336G>C
ENST00000683870.1:c.919G>C	ENSP00000507922.1:p.Asp307His
ENST00000683881.1:n.3480G>C
ENST00000684039.1:c.919G>C	ENSP00000507677.1:p.Asp307His
ENST00000684124.1:c.919G>C	ENSP00000508332.1:p.Asp307His
ENST00000684533.1:c.744-5081G>C	ENSP00000507915.1:n.744-5081G>C
ENST00000533608.7:c.919G>C MANE Select	ENSP00000431173.2:p.Asp307His
ENST00000343631.3:c.919G>C	ENSP00000342656.3:p.Asp307His
ENST00000358681.8:c.919G>C	ENSP00000351509.4:p.Asp307His
ENST00000395673.7:c.1018G>C	ENSP00000379032.3:p.Asp340His
ENST00000531161.5:n.96G>C
ENST00000533608.5:c.919G>C	ENSP00000431173.1:p.Asp307His
NM_000401.3:c.1018G>C , LRG_494t1:c.1018G>C	NP_000392.3:p.Asp340His
NM_001178083.1:c.919G>C	NP_001171554.1:p.Asp307His
NM_207122.1:c.919G>C , LRG_494t2:c.919G>C	NP_997005.1:p.Asp307His
XM_011519950.1:c.1057G>C	XP_011518252.1:p.Asp353His
XM_011519951.1:c.958G>C	XP_011518253.1:p.Asp320His
XM_024448383.1:c.1057G>C	XP_024304151.1:p.Asp353His
NM_001178083.2:c.919G>C	NP_001171554.1:p.Asp307His
NM_207122.2:c.919G>C MANE Select	NP_997005.1:p.Asp307His
NM_001178083.3:c.919G>C	NP_001171554.1:p.Asp307His
NM_001389628.1:c.919G>C	NP_001376557.1:p.Asp307His
NM_001389630.1:c.919G>C	NP_001376559.1:p.Asp307His