Canonical Allele Identifier: CA361672122

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148417858A>C (hg19) ; chr5:g.149038295A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149038295A>C , CM000667.2:g.149038295A>C	GRCh38
NC_000005.9:g.148417858A>C , CM000667.1:g.148417858A>C	GRCh37
NC_000005.8:g.148398051A>C	NCBI36
NG_007947.2:g.29880T>G , LRG_269:g.29880T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.891T>G
ENST00000515425.6:c.1001T>G MANE Select	ENSP00000423660.1:p.Met334Arg
ENST00000674655.1:c.263T>G	ENSP00000502840.1:p.Ile88Arg
ENST00000674983.1:c.*259T>G	ENSP00000502387.1:n.*259T>G
ENST00000675793.1:c.1001T>G	ENSP00000502039.1:p.Ile334Ser
ENST00000676056.1:c.*259T>G	ENSP00000501827.1:n.*259T>G
ENST00000323829.9:c.*259T>G	ENSP00000313025.5:n.*259T>G
ENST00000503071.1:n.468T>G
ENST00000504517.5:c.401T>G	ENSP00000421779.1:p.Met134Arg
ENST00000504690.5:c.1001T>G	ENSP00000425627.1:p.Met334Arg
ENST00000511307.5:c.*781T>G	ENSP00000421420.1:n.*781T>G
ENST00000512049.5:c.980T>G	ENSP00000421860.1:p.Met327Arg
ENST00000513604.5:c.*259T>G	ENSP00000423111.1:n.*259T>G
ENST00000515425.5:c.1001T>G	ENSP00000423660.1:p.Met334Arg
NM_024577.3:c.1001T>G , LRG_269t1:c.1001T>G	NP_078853.2:p.Met334Arg
NM_024577.4:c.1001T>G MANE Select	NP_078853.2:p.Met334Arg