Canonical Allele Identifier: CA361665288

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1406022807
• gnomAD v2: 5-148406250-A-T
• gnomAD v4: 5-149026687-A-T
• MyVariant Identifiers: chr5:g.148406250A>T (hg19) ; chr5:g.149026687A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026687A>T , CM000667.2:g.149026687A>T	GRCh38
NC_000005.9:g.148406250A>T , CM000667.1:g.148406250A>T	GRCh37
NC_000005.8:g.148386443A>T	NCBI36
NG_007947.2:g.41488T>A , LRG_269:g.41488T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2834T>A
ENST00000515425.6:c.2938T>A MANE Select	ENSP00000423660.1:p.Cys980Ser
ENST00000675793.1:c.*2222T>A	ENSP00000502039.1:n.*2222T>A
ENST00000676056.1:c.*2448T>A	ENSP00000501827.1:n.*2448T>A
ENST00000323829.9:c.*2326T>A	ENSP00000313025.5:n.*2326T>A
ENST00000504517.5:c.2468T>A	ENSP00000421779.1:n.2468T>A
ENST00000504690.5:c.2938T>A	ENSP00000425627.1:p.Cys980Ser
ENST00000510779.1:c.1988T>A
ENST00000511307.5:c.*2825T>A	ENSP00000421420.1:n.*2825T>A
ENST00000512049.5:c.2917T>A	ENSP00000421860.1:p.Cys973Ser
ENST00000513604.5:c.*2433T>A	ENSP00000423111.1:n.*2433T>A
ENST00000515425.5:c.2938T>A	ENSP00000423660.1:p.Cys980Ser
NM_024577.3:c.2938T>A , LRG_269t1:c.2938T>A	NP_078853.2:p.Cys980Ser
NM_024577.4:c.2938T>A MANE Select	NP_078853.2:p.Cys980Ser