Canonical Allele Identifier: CA41304478

Gene: SH3YL1

Linked Data

• dbSNP Id: rs191142243
• gnomAD v3: 2-263149-A-C
• gnomAD v4: 2-263149-A-C
• MyVariant Identifiers: chr2:g.263149A>C (hg19) ; chr2:g.263149A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263149A>C , CM000664.2:g.263149A>C	GRCh38
NC_000002.11:g.263149A>C , CM000664.1:g.263149A>C	GRCh37
NC_000002.10:g.253149A>C	NCBI36
NG_012035.1:g.3281A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+835T>G MANE Select	ENSP00000348471.5:n.1+835T>G
ENST00000356150.9:c.1+835T>G	ENSP00000348471.5:n.1+835T>G
ENST00000402632.5:c.-155-363T>G	ENSP00000384910.1:n.-155-363T>G
ENST00000403658.5:c.-422+1633T>G	ENSP00000383928.1:n.-422+1633T>G
ENST00000403712.6:c.1+835T>G	ENSP00000384276.1:n.1+835T>G
ENST00000405430.5:c.-120+62T>G	ENSP00000384269.1:n.-120+62T>G
ENST00000415368.5:c.-156+62T>G	ENSP00000410235.1:n.-156+62T>G
ENST00000454318.1:c.-362+1633T>G	ENSP00000415723.1:n.-362+1633T>G
ENST00000462719.1:n.106-2429T>G
ENST00000463865.5:n.309+935T>G
ENST00000465733.5:n.191+62T>G
ENST00000468321.5:n.42-363T>G
ENST00000471948.5:n.773+62T>G
ENST00000472861.1:n.191+62T>G
ENST00000475027.5:n.29+1633T>G
ENST00000477707.5:n.390+62T>G
ENST00000488044.5:n.85+1633T>G
ENST00000488979.6:n.27+1393T>G
ENST00000626873.2:c.-556+995T>G	ENSP00000485824.1:n.-556+995T>G
NM_001159597.2:c.1+835T>G	NP_001153069.1:n.1+835T>G
NM_001282682.1:c.-422+1633T>G	NP_001269611.1:n.-422+1633T>G
NM_015677.3:c.1+835T>G	NP_056492.2:n.1+835T>G
NR_104223.1:n.42-363T>G
NR_104224.1:n.86-363T>G
NR_104225.1:n.309+935T>G
NM_015677.4:c.1+835T>G MANE Select	NP_056492.2:n.1+835T>G
NR_104224.2:n.44-363T>G
NM_001159597.3:c.1+835T>G	NP_001153069.1:n.1+835T>G
NM_001282682.2:c.-422+1633T>G	NP_001269611.1:n.-422+1633T>G
NR_104223.2:n.42-363T>G
NR_104224.3:n.44-363T>G