Canonical Allele Identifier: CA41304502

Gene: SH3YL1

Linked Data

• dbSNP Id: rs983159168
• gnomAD v4: 2-263312-T-C
• MyVariant Identifiers: chr2:g.263312T>C (hg19) ; chr2:g.263312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263312T>C , CM000664.2:g.263312T>C	GRCh38
NC_000002.11:g.263312T>C , CM000664.1:g.263312T>C	GRCh37
NC_000002.10:g.253312T>C	NCBI36
NG_012035.1:g.3444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+672A>G MANE Select	ENSP00000348471.5:n.1+672A>G
ENST00000356150.9:c.1+672A>G	ENSP00000348471.5:n.1+672A>G
ENST00000402632.5:c.-155-526A>G	ENSP00000384910.1:n.-155-526A>G
ENST00000403658.5:c.-422+1470A>G	ENSP00000383928.1:n.-422+1470A>G
ENST00000403712.6:c.1+672A>G	ENSP00000384276.1:n.1+672A>G
ENST00000405430.5:c.-221A>G	ENSP00000384269.1:n.-221A>G
ENST00000415368.5:c.-257A>G	ENSP00000410235.1:n.-257A>G
ENST00000454318.1:c.-362+1470A>G	ENSP00000415723.1:n.-362+1470A>G
ENST00000462719.1:n.106-2592A>G
ENST00000463865.5:n.309+772A>G
ENST00000465733.5:n.90A>G
ENST00000468321.5:n.42-526A>G
ENST00000471948.5:n.672A>G
ENST00000472861.1:n.90A>G
ENST00000475027.5:n.29+1470A>G
ENST00000477707.5:n.289A>G
ENST00000488044.5:n.85+1470A>G
ENST00000488979.6:n.27+1230A>G
ENST00000626873.2:c.-556+832A>G	ENSP00000485824.1:n.-556+832A>G
NM_001159597.2:c.1+672A>G	NP_001153069.1:n.1+672A>G
NM_001282682.1:c.-422+1470A>G	NP_001269611.1:n.-422+1470A>G
NM_015677.3:c.1+672A>G	NP_056492.2:n.1+672A>G
NR_104223.1:n.42-526A>G
NR_104224.1:n.86-526A>G
NR_104225.1:n.309+772A>G
NM_015677.4:c.1+672A>G MANE Select	NP_056492.2:n.1+672A>G
NR_104224.2:n.44-526A>G
NM_001159597.3:c.1+672A>G	NP_001153069.1:n.1+672A>G
NM_001282682.2:c.-422+1470A>G	NP_001269611.1:n.-422+1470A>G
NR_104223.2:n.42-526A>G
NR_104224.3:n.44-526A>G