Canonical Allele Identifier: CA361664649

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1412844316
• gnomAD v3: 5-149008946-A-C
• gnomAD v4: 5-149008946-A-C
• MyVariant Identifiers: chr5:g.148388509A>C (hg19) ; chr5:g.149008946A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008946A>C , CM000667.2:g.149008946A>C	GRCh38
NC_000005.9:g.148388509A>C , CM000667.1:g.148388509A>C	GRCh37
NC_000005.8:g.148368702A>C	NCBI36
NG_007947.2:g.59229T>G , LRG_269:g.59229T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3279T>G
ENST00000515425.6:c.3383T>G MANE Select	ENSP00000423660.1:p.Ile1128Ser
ENST00000675793.1:c.*2667T>G	ENSP00000502039.1:n.*2667T>G
ENST00000323829.9:c.*2771T>G	ENSP00000313025.5:n.*2771T>G
ENST00000504517.5:c.2913T>G	ENSP00000421779.1:n.2913T>G
ENST00000504690.5:c.3383T>G	ENSP00000425627.1:p.Ile1128Ser
ENST00000510779.1:c.2433T>G
ENST00000512049.5:c.3362T>G	ENSP00000421860.1:p.Ile1121Ser
ENST00000515229.5:n.45T>G
ENST00000515425.5:c.3383T>G	ENSP00000423660.1:p.Ile1128Ser
NM_024577.3:c.3383T>G , LRG_269t1:c.3383T>G	NP_078853.2:p.Ile1128Ser
NM_024577.4:c.3383T>G MANE Select	NP_078853.2:p.Ile1128Ser