Canonical Allele Identifier: CA361664641

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149008943-A-C
• MyVariant Identifiers: chr5:g.148388506A>C (hg19) ; chr5:g.149008943A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008943A>C , CM000667.2:g.149008943A>C	GRCh38
NC_000005.9:g.148388506A>C , CM000667.1:g.148388506A>C	GRCh37
NC_000005.8:g.148368699A>C	NCBI36
NG_007947.2:g.59232T>G , LRG_269:g.59232T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3282T>G
ENST00000515425.6:c.3386T>G MANE Select	ENSP00000423660.1:p.Phe1129Cys
ENST00000675793.1:c.*2670T>G	ENSP00000502039.1:n.*2670T>G
ENST00000323829.9:c.*2774T>G	ENSP00000313025.5:n.*2774T>G
ENST00000504517.5:c.2916T>G	ENSP00000421779.1:n.2916T>G
ENST00000504690.5:c.3386T>G	ENSP00000425627.1:p.Phe1129Cys
ENST00000510779.1:c.2436T>G
ENST00000512049.5:c.3365T>G	ENSP00000421860.1:p.Phe1122Cys
ENST00000515229.5:n.48T>G
ENST00000515425.5:c.3386T>G	ENSP00000423660.1:p.Phe1129Cys
NM_024577.3:c.3386T>G , LRG_269t1:c.3386T>G	NP_078853.2:p.Phe1129Cys
NM_024577.4:c.3386T>G MANE Select	NP_078853.2:p.Phe1129Cys