Canonical Allele Identifier: CA2675887498

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149026564-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026564T>G , CM000667.2:g.149026564T>G	GRCh38
NC_000005.9:g.148406127T>G , CM000667.1:g.148406127T>G	GRCh37
NC_000005.8:g.148386320T>G	NCBI36
NG_007947.2:g.41611A>C , LRG_269:g.41611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2949+8A>C
ENST00000515425.6:c.3053+8A>C MANE Select	ENSP00000423660.1:n.3053+8A>C
ENST00000675793.1:c.*2337+8A>C	ENSP00000502039.1:n.*2337+8A>C
ENST00000676056.1:c.*2563+8A>C	ENSP00000501827.1:n.*2563+8A>C
ENST00000323829.9:c.*2441+8A>C	ENSP00000313025.5:n.*2441+8A>C
ENST00000504517.5:c.2583+8A>C	ENSP00000421779.1:n.2583+8A>C
ENST00000504690.5:c.3053+8A>C	ENSP00000425627.1:n.3053+8A>C
ENST00000510779.1:c.2103+8A>C
ENST00000511307.5:c.*2948A>C	ENSP00000421420.1:n.*2948A>C
ENST00000512049.5:c.3032+8A>C	ENSP00000421860.1:n.3032+8A>C
ENST00000513604.5:c.*2556A>C	ENSP00000423111.1:n.*2556A>C
ENST00000515425.5:c.3053+8A>C	ENSP00000423660.1:n.3053+8A>C
NM_024577.3:c.3053+8A>C , LRG_269t1:c.3053+8A>C	NP_078853.2:n.3053+8A>C
NM_024577.4:c.3053+8A>C MANE Select	NP_078853.2:n.3053+8A>C