Canonical Allele Identifier: CA361664463

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1753735272
• gnomAD v3: 5-149008860-T-G
• gnomAD v4: 5-149008860-T-G
• MyVariant Identifiers: chr5:g.148388423T>G (hg19) ; chr5:g.149008860T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008860T>G , CM000667.2:g.149008860T>G	GRCh38
NC_000005.9:g.148388423T>G , CM000667.1:g.148388423T>G	GRCh37
NC_000005.8:g.148368616T>G	NCBI36
NG_007947.2:g.59315A>C , LRG_269:g.59315A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3365A>C
ENST00000515425.6:c.3469A>C MANE Select	ENSP00000423660.1:p.Thr1157Pro
ENST00000675793.1:c.*2753A>C	ENSP00000502039.1:n.*2753A>C
ENST00000323829.9:c.*2857A>C	ENSP00000313025.5:n.*2857A>C
ENST00000504517.5:c.2999A>C	ENSP00000421779.1:n.2999A>C
ENST00000504690.5:c.3469A>C	ENSP00000425627.1:p.Thr1157Pro
ENST00000510779.1:c.2519A>C
ENST00000512049.5:c.3448A>C	ENSP00000421860.1:p.Thr1150Pro
ENST00000515229.5:n.131A>C
ENST00000515425.5:c.3469A>C	ENSP00000423660.1:p.Thr1157Pro
NM_024577.3:c.3469A>C , LRG_269t1:c.3469A>C	NP_078853.2:p.Thr1157Pro
NM_024577.4:c.3469A>C MANE Select	NP_078853.2:p.Thr1157Pro