Canonical Allele Identifier: CA767229400

Gene: SH3YL1

Linked Data

• dbSNP Id: rs1396290921
• gnomAD v3: 2-263186-T-C
• gnomAD v4: 2-263186-T-C
• MyVariant Identifiers: chr2:g.263186T>C (hg19) ; chr2:g.263186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263186T>C , CM000664.2:g.263186T>C	GRCh38
NC_000002.11:g.263186T>C , CM000664.1:g.263186T>C	GRCh37
NC_000002.10:g.253186T>C	NCBI36
NG_012035.1:g.3318T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356150.10:c.1+798A>G MANE Select	ENSP00000348471.5:n.1+798A>G
ENST00000356150.9:c.1+798A>G	ENSP00000348471.5:n.1+798A>G
ENST00000402632.5:c.-155-400A>G	ENSP00000384910.1:n.-155-400A>G
ENST00000403658.5:c.-422+1596A>G	ENSP00000383928.1:n.-422+1596A>G
ENST00000403712.6:c.1+798A>G	ENSP00000384276.1:n.1+798A>G
ENST00000405430.5:c.-120+25A>G	ENSP00000384269.1:n.-120+25A>G
ENST00000415368.5:c.-156+25A>G	ENSP00000410235.1:n.-156+25A>G
ENST00000454318.1:c.-362+1596A>G	ENSP00000415723.1:n.-362+1596A>G
ENST00000462719.1:n.106-2466A>G
ENST00000463865.5:n.309+898A>G
ENST00000465733.5:n.191+25A>G
ENST00000468321.5:n.42-400A>G
ENST00000471948.5:n.773+25A>G
ENST00000472861.1:n.191+25A>G
ENST00000475027.5:n.29+1596A>G
ENST00000477707.5:n.390+25A>G
ENST00000488044.5:n.85+1596A>G
ENST00000488979.6:n.27+1356A>G
ENST00000626873.2:c.-556+958A>G	ENSP00000485824.1:n.-556+958A>G
NM_001159597.2:c.1+798A>G	NP_001153069.1:n.1+798A>G
NM_001282682.1:c.-422+1596A>G	NP_001269611.1:n.-422+1596A>G
NM_015677.3:c.1+798A>G	NP_056492.2:n.1+798A>G
NR_104223.1:n.42-400A>G
NR_104224.1:n.86-400A>G
NR_104225.1:n.309+898A>G
NM_015677.4:c.1+798A>G MANE Select	NP_056492.2:n.1+798A>G
NR_104224.2:n.44-400A>G
NM_001159597.3:c.1+798A>G	NP_001153069.1:n.1+798A>G
NM_001282682.2:c.-422+1596A>G	NP_001269611.1:n.-422+1596A>G
NR_104223.2:n.42-400A>G
NR_104224.3:n.44-400A>G