Canonical Allele Identifier: CA128983306

Gene: SH3TC2

Linked Data

• dbSNP Id: rs939184464
• gnomAD v4: 5-149026611-T-C
• MyVariant Identifiers: chr5:g.148406174T>C (hg19) ; chr5:g.149026611T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026611T>C , CM000667.2:g.149026611T>C	GRCh38
NC_000005.9:g.148406174T>C , CM000667.1:g.148406174T>C	GRCh37
NC_000005.8:g.148386367T>C	NCBI36
NG_007947.2:g.41564A>G , LRG_269:g.41564A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2910A>G
ENST00000515425.6:c.3014A>G MANE Select	ENSP00000423660.1:p.Glu1005Gly
ENST00000675793.1:c.*2298A>G	ENSP00000502039.1:n.*2298A>G
ENST00000676056.1:c.*2524A>G	ENSP00000501827.1:n.*2524A>G
ENST00000323829.9:c.*2402A>G	ENSP00000313025.5:n.*2402A>G
ENST00000504517.5:c.2544A>G	ENSP00000421779.1:n.2544A>G
ENST00000504690.5:c.3014A>G	ENSP00000425627.1:p.Glu1005Gly
ENST00000510779.1:c.2064A>G
ENST00000511307.5:c.*2901A>G	ENSP00000421420.1:n.*2901A>G
ENST00000512049.5:c.2993A>G	ENSP00000421860.1:p.Glu998Gly
ENST00000513604.5:c.*2509A>G	ENSP00000423111.1:n.*2509A>G
ENST00000515425.5:c.3014A>G	ENSP00000423660.1:p.Glu1005Gly
NM_024577.3:c.3014A>G , LRG_269t1:c.3014A>G	NP_078853.2:p.Glu1005Gly
NM_024577.4:c.3014A>G MANE Select	NP_078853.2:p.Glu1005Gly