Canonical Allele Identifier: CA2739865918

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026798A>C , CM000667.2:g.149026798A>C	GRCh38
NC_000005.9:g.148406361A>C , CM000667.1:g.148406361A>C	GRCh37
NC_000005.8:g.148386554A>C	NCBI36
NG_007947.2:g.41377T>G , LRG_269:g.41377T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2769-46T>G
ENST00000515425.6:c.2873-46T>G MANE Select	ENSP00000423660.1:n.2873-46T>G
ENST00000675793.1:c.*2157-46T>G	ENSP00000502039.1:n.*2157-46T>G
ENST00000676056.1:c.*2383-46T>G	ENSP00000501827.1:n.*2383-46T>G
ENST00000323829.9:c.*2261-46T>G	ENSP00000313025.5:n.*2261-46T>G
ENST00000504517.5:c.2403-46T>G	ENSP00000421779.1:n.2403-46T>G
ENST00000504690.5:c.2873-46T>G	ENSP00000425627.1:n.2873-46T>G
ENST00000510779.1:c.1923-46T>G
ENST00000511307.5:c.*2714T>G	ENSP00000421420.1:n.*2714T>G
ENST00000512049.5:c.2852-46T>G	ENSP00000421860.1:n.2852-46T>G
ENST00000513604.5:c.*2322T>G	ENSP00000423111.1:n.*2322T>G
ENST00000515425.5:c.2873-46T>G	ENSP00000423660.1:n.2873-46T>G
NM_024577.3:c.2873-46T>G , LRG_269t1:c.2873-46T>G	NP_078853.2:n.2873-46T>G
NM_024577.4:c.2873-46T>G MANE Select	NP_078853.2:n.2873-46T>G