Canonical Allele Identifier: CA2675887575

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149026815-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026815C>A , CM000667.2:g.149026815C>A	GRCh38
NC_000005.9:g.148406378C>A , CM000667.1:g.148406378C>A	GRCh37
NC_000005.8:g.148386571C>A	NCBI36
NG_007947.2:g.41360G>T , LRG_269:g.41360G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2768+45G>T
ENST00000515425.6:c.2872+45G>T MANE Select	ENSP00000423660.1:n.2872+45G>T
ENST00000675793.1:c.*2156+45G>T	ENSP00000502039.1:n.*2156+45G>T
ENST00000676056.1:c.*2382+45G>T	ENSP00000501827.1:n.*2382+45G>T
ENST00000323829.9:c.*2260+45G>T	ENSP00000313025.5:n.*2260+45G>T
ENST00000504517.5:c.2402+45G>T	ENSP00000421779.1:n.2402+45G>T
ENST00000504690.5:c.2872+45G>T	ENSP00000425627.1:n.2872+45G>T
ENST00000510779.1:c.1922+45G>T
ENST00000511307.5:c.*2697G>T	ENSP00000421420.1:n.*2697G>T
ENST00000512049.5:c.2851+45G>T	ENSP00000421860.1:n.2851+45G>T
ENST00000513604.5:c.*2305G>T	ENSP00000423111.1:n.*2305G>T
ENST00000515425.5:c.2872+45G>T	ENSP00000423660.1:n.2872+45G>T
NM_024577.3:c.2872+45G>T , LRG_269t1:c.2872+45G>T	NP_078853.2:n.2872+45G>T
NM_024577.4:c.2872+45G>T MANE Select	NP_078853.2:n.2872+45G>T