Canonical Allele Identifier: CA128983465

Gene: SH3TC2

Linked Data

• dbSNP Id: rs958687499
• gnomAD v2: 5-148406255-T-A
• gnomAD v3: 5-149026692-T-A
• gnomAD v4: 5-149026692-T-A
• MyVariant Identifiers: chr5:g.148406255T>A (hg19) ; chr5:g.149026692T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026692T>A , CM000667.2:g.149026692T>A	GRCh38
NC_000005.9:g.148406255T>A , CM000667.1:g.148406255T>A	GRCh37
NC_000005.8:g.148386448T>A	NCBI36
NG_007947.2:g.41483A>T , LRG_269:g.41483A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2829A>T
ENST00000515425.6:c.2933A>T MANE Select	ENSP00000423660.1:p.Glu978Val
ENST00000675793.1:c.*2217A>T	ENSP00000502039.1:n.*2217A>T
ENST00000676056.1:c.*2443A>T	ENSP00000501827.1:n.*2443A>T
ENST00000323829.9:c.*2321A>T	ENSP00000313025.5:n.*2321A>T
ENST00000504517.5:c.2463A>T	ENSP00000421779.1:n.2463A>T
ENST00000504690.5:c.2933A>T	ENSP00000425627.1:p.Glu978Val
ENST00000510779.1:c.1983A>T
ENST00000511307.5:c.*2820A>T	ENSP00000421420.1:n.*2820A>T
ENST00000512049.5:c.2912A>T	ENSP00000421860.1:p.Glu971Val
ENST00000513604.5:c.*2428A>T	ENSP00000423111.1:n.*2428A>T
ENST00000515425.5:c.2933A>T	ENSP00000423660.1:p.Glu978Val
NM_024577.3:c.2933A>T , LRG_269t1:c.2933A>T	NP_078853.2:p.Glu978Val
NM_024577.4:c.2933A>T MANE Select	NP_078853.2:p.Glu978Val