Canonical Allele Identifier: CA361664762

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 543324
• ClinVar RCV Id: RCV000654060
• dbSNP Id: rs1554120331
• MyVariant Identifiers: chr5:g.148388565C>A (hg19) ; chr5:g.149009002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149009002C>A , CM000667.2:g.149009002C>A	GRCh38
NC_000005.9:g.148388565C>A , CM000667.1:g.148388565C>A	GRCh37
NC_000005.8:g.148368758C>A	NCBI36
NG_007947.2:g.59173G>T , LRG_269:g.59173G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3224-1G>T
ENST00000515425.6:c.3328-1G>T MANE Select	ENSP00000423660.1:n.3328-1G>T
ENST00000675793.1:c.*2612-1G>T	ENSP00000502039.1:n.*2612-1G>T
ENST00000323829.9:c.*2716-1G>T	ENSP00000313025.5:n.*2716-1G>T
ENST00000504517.5:c.2858-1G>T	ENSP00000421779.1:n.2858-1G>T
ENST00000504690.5:c.3328-1G>T	ENSP00000425627.1:n.3328-1G>T
ENST00000510779.1:c.2378-1G>T
ENST00000512049.5:c.3307-1G>T	ENSP00000421860.1:n.3307-1G>T
ENST00000515425.5:c.3328-1G>T	ENSP00000423660.1:n.3328-1G>T
NM_024577.3:c.3328-1G>T , LRG_269t1:c.3328-1G>T	NP_078853.2:n.3328-1G>T
NM_024577.4:c.3328-1G>T MANE Select	NP_078853.2:n.3328-1G>T