Canonical Allele Identifier: CA361664547

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149008900-C-G
• MyVariant Identifiers: chr5:g.148388463C>G (hg19) ; chr5:g.149008900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008900C>G , CM000667.2:g.149008900C>G	GRCh38
NC_000005.9:g.148388463C>G , CM000667.1:g.148388463C>G	GRCh37
NC_000005.8:g.148368656C>G	NCBI36
NG_007947.2:g.59275G>C , LRG_269:g.59275G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.3325G>C
ENST00000515425.6:c.3429G>C MANE Select	ENSP00000423660.1:p.Glu1143Asp
ENST00000675793.1:c.*2713G>C	ENSP00000502039.1:n.*2713G>C
ENST00000323829.9:c.*2817G>C	ENSP00000313025.5:n.*2817G>C
ENST00000504517.5:c.2959G>C	ENSP00000421779.1:n.2959G>C
ENST00000504690.5:c.3429G>C	ENSP00000425627.1:p.Glu1143Asp
ENST00000510779.1:c.2479G>C
ENST00000512049.5:c.3408G>C	ENSP00000421860.1:p.Glu1136Asp
ENST00000515229.5:n.91G>C
ENST00000515425.5:c.3429G>C	ENSP00000423660.1:p.Glu1143Asp
NM_024577.3:c.3429G>C , LRG_269t1:c.3429G>C	NP_078853.2:p.Glu1143Asp
NM_024577.4:c.3429G>C MANE Select	NP_078853.2:p.Glu1143Asp