Canonical Allele Identifier: CA447399524

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407381C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027818C>G , CM000667.2:g.149027818C>G	GRCh38
NC_000005.9:g.148407381C>G , CM000667.1:g.148407381C>G	GRCh37
NC_000005.8:g.148387574C>G	NCBI36
NG_007947.2:g.40357G>C , LRG_269:g.40357G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1810G>C
ENST00000515425.6:c.1914G>C MANE Select	ENSP00000423660.1:p.Leu638=
ENST00000675793.1:c.*1198G>C	ENSP00000502039.1:n.*1198G>C
ENST00000676056.1:c.*1424G>C	ENSP00000501827.1:n.*1424G>C
ENST00000323829.9:c.*1302G>C	ENSP00000313025.5:n.*1302G>C
ENST00000504517.5:c.1444G>C	ENSP00000421779.1:n.1444G>C
ENST00000504690.5:c.1914G>C	ENSP00000425627.1:p.Leu638=
ENST00000510779.1:c.964G>C
ENST00000511307.5:c.*1694G>C	ENSP00000421420.1:n.*1694G>C
ENST00000512049.5:c.1893G>C	ENSP00000421860.1:p.Leu631=
ENST00000513604.5:c.*1302G>C	ENSP00000423111.1:n.*1302G>C
ENST00000515425.5:c.1914G>C	ENSP00000423660.1:p.Leu638=
NM_024577.3:c.1914G>C , LRG_269t1:c.1914G>C	NP_078853.2:p.Leu638=
NM_024577.4:c.1914G>C MANE Select	NP_078853.2:p.Leu638=