Canonical Allele Identifier: CA361664220

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 543366
• ClinVar RCV Id: RCV000654114
• dbSNP Id: rs200728983
• MyVariant Identifiers: chr5:g.148386607C>G (hg19) ; chr5:g.149007044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149007044C>G , CM000667.2:g.149007044C>G	GRCh38
NC_000005.9:g.148386607C>G , CM000667.1:g.148386607C>G	GRCh37
NC_000005.8:g.148366800C>G	NCBI36
NG_007947.2:g.61131G>C , LRG_269:g.61131G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4365G>C
ENST00000515425.6:c.3512G>C MANE Select	ENSP00000423660.1:p.Arg1171Pro
ENST00000675793.1:c.*4569G>C	ENSP00000502039.1:n.*4569G>C
ENST00000323829.9:c.*2900G>C	ENSP00000313025.5:n.*2900G>C
ENST00000502274.1:c.98G>C	ENSP00000421092.1:p.Arg33Pro
ENST00000504517.5:c.3034G>C	ENSP00000421779.1:n.3034G>C
ENST00000504690.5:c.3512G>C	ENSP00000425627.1:p.Arg1171Pro
ENST00000510350.1:n.68G>C
ENST00000510779.1:c.2562G>C
ENST00000512049.5:c.3491G>C	ENSP00000421860.1:p.Arg1164Pro
ENST00000515229.5:n.174G>C
ENST00000515425.5:c.3512G>C	ENSP00000423660.1:p.Arg1171Pro
NM_024577.3:c.3512G>C , LRG_269t1:c.3512G>C	NP_078853.2:p.Arg1171Pro
NM_024577.4:c.3512G>C MANE Select	NP_078853.2:p.Arg1171Pro