Canonical Allele Identifier: CA361666888

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149027543-C-G
• MyVariant Identifiers: chr5:g.148407106C>G (hg19) ; chr5:g.149027543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027543C>G , CM000667.2:g.149027543C>G	GRCh38
NC_000005.9:g.148407106C>G , CM000667.1:g.148407106C>G	GRCh37
NC_000005.8:g.148387299C>G	NCBI36
NG_007947.2:g.40632G>C , LRG_269:g.40632G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2085G>C
ENST00000515425.6:c.2189G>C MANE Select	ENSP00000423660.1:p.Gly730Ala
ENST00000675793.1:c.*1473G>C	ENSP00000502039.1:n.*1473G>C
ENST00000676056.1:c.*1699G>C	ENSP00000501827.1:n.*1699G>C
ENST00000323829.9:c.*1577G>C	ENSP00000313025.5:n.*1577G>C
ENST00000504517.5:c.1719G>C	ENSP00000421779.1:n.1719G>C
ENST00000504690.5:c.2189G>C	ENSP00000425627.1:p.Gly730Ala
ENST00000510779.1:c.1239G>C
ENST00000511307.5:c.*1969G>C	ENSP00000421420.1:n.*1969G>C
ENST00000512049.5:c.2168G>C	ENSP00000421860.1:p.Gly723Ala
ENST00000513604.5:c.*1577G>C	ENSP00000423111.1:n.*1577G>C
ENST00000515425.5:c.2189G>C	ENSP00000423660.1:p.Gly730Ala
NM_024577.3:c.2189G>C , LRG_269t1:c.2189G>C	NP_078853.2:p.Gly730Ala
NM_024577.4:c.2189G>C MANE Select	NP_078853.2:p.Gly730Ala