Canonical Allele Identifier: CA339657

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 218918
• ClinVar RCV Id: RCV000203275 ; RCV001045169
• dbSNP Id: rs864309709
• gnomAD v2: 5-148442585-T-C
• gnomAD v4: 5-149063022-T-C
• MyVariant Identifiers: chr5:g.148442585T>C (hg19) ; chr5:g.149063022T>C (hg38)
• PubMed: PMID:23806086

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149063022T>C , CM000667.2:g.149063022T>C	GRCh38
NC_000005.9:g.148442585T>C , CM000667.1:g.148442585T>C	GRCh37
NC_000005.8:g.148422778T>C	NCBI36
NG_007947.2:g.5153A>G , LRG_269:g.5153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.1A>G MANE Select	ENSP00000423660.1:p.Met1Val
ENST00000674983.1:c.1A>G	ENSP00000502387.1:p.Met1Val
ENST00000675793.1:c.1A>G	ENSP00000502039.1:p.Met1Val
ENST00000676056.1:c.1A>G	ENSP00000501827.1:p.Met1Val
ENST00000323829.9:c.1A>G	ENSP00000313025.5:p.Met1Val
ENST00000504091.1:n.37A>G
ENST00000504690.5:c.1A>G	ENSP00000425627.1:p.Met1Val
ENST00000511307.5:c.1A>G	ENSP00000421420.1:p.Met1Val
ENST00000511949.5:n.41A>G
ENST00000512049.5:c.1A>G	ENSP00000421860.1:p.Met1Val
ENST00000513604.5:c.1A>G	ENSP00000423111.1:p.Met1Val
ENST00000515425.5:c.1A>G	ENSP00000423660.1:p.Met1Val
NM_024577.3:c.1A>G , LRG_269t1:c.1A>G	NP_078853.2:p.Met1Val
NM_024577.4:c.1A>G MANE Select	NP_078853.2:p.Met1Val