Canonical Allele Identifier: CA361665107

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1053017
• ClinVar RCV Id: RCV001361303
• dbSNP Id: rs2127396858
• MyVariant Identifiers: chr5:g.148406165C>G (hg19) ; chr5:g.149026602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026602C>G , CM000667.2:g.149026602C>G	GRCh38
NC_000005.9:g.148406165C>G , CM000667.1:g.148406165C>G	GRCh37
NC_000005.8:g.148386358C>G	NCBI36
NG_007947.2:g.41573G>C , LRG_269:g.41573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2919G>C
ENST00000515425.6:c.3023G>C MANE Select	ENSP00000423660.1:p.Gly1008Ala
ENST00000675793.1:c.*2307G>C	ENSP00000502039.1:n.*2307G>C
ENST00000676056.1:c.*2533G>C	ENSP00000501827.1:n.*2533G>C
ENST00000323829.9:c.*2411G>C	ENSP00000313025.5:n.*2411G>C
ENST00000504517.5:c.2553G>C	ENSP00000421779.1:n.2553G>C
ENST00000504690.5:c.3023G>C	ENSP00000425627.1:p.Gly1008Ala
ENST00000510779.1:c.2073G>C
ENST00000511307.5:c.*2910G>C	ENSP00000421420.1:n.*2910G>C
ENST00000512049.5:c.3002G>C	ENSP00000421860.1:p.Gly1001Ala
ENST00000513604.5:c.*2518G>C	ENSP00000423111.1:n.*2518G>C
ENST00000515425.5:c.3023G>C	ENSP00000423660.1:p.Gly1008Ala
NM_024577.3:c.3023G>C , LRG_269t1:c.3023G>C	NP_078853.2:p.Gly1008Ala
NM_024577.4:c.3023G>C MANE Select	NP_078853.2:p.Gly1008Ala