Canonical Allele Identifier: CA361667618

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149027894-A-C
• MyVariant Identifiers: chr5:g.148407457A>C (hg19) ; chr5:g.149027894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027894A>C , CM000667.2:g.149027894A>C	GRCh38
NC_000005.9:g.148407457A>C , CM000667.1:g.148407457A>C	GRCh37
NC_000005.8:g.148387650A>C	NCBI36
NG_007947.2:g.40281T>G , LRG_269:g.40281T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1734T>G
ENST00000515425.6:c.1838T>G MANE Select	ENSP00000423660.1:p.Leu613Arg
ENST00000675793.1:c.*1122T>G	ENSP00000502039.1:n.*1122T>G
ENST00000676056.1:c.*1348T>G	ENSP00000501827.1:n.*1348T>G
ENST00000323829.9:c.*1226T>G	ENSP00000313025.5:n.*1226T>G
ENST00000504517.5:c.1368T>G	ENSP00000421779.1:n.1368T>G
ENST00000504690.5:c.1838T>G	ENSP00000425627.1:p.Leu613Arg
ENST00000510779.1:c.888T>G
ENST00000511307.5:c.*1618T>G	ENSP00000421420.1:n.*1618T>G
ENST00000512049.5:c.1817T>G	ENSP00000421860.1:p.Leu606Arg
ENST00000513604.5:c.*1226T>G	ENSP00000423111.1:n.*1226T>G
ENST00000515425.5:c.1838T>G	ENSP00000423660.1:p.Leu613Arg
NM_024577.3:c.1838T>G , LRG_269t1:c.1838T>G	NP_078853.2:p.Leu613Arg
NM_024577.4:c.1838T>G MANE Select	NP_078853.2:p.Leu613Arg