Canonical Allele Identifier: CA2578445749

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026819A>G , CM000667.2:g.149026819A>G	GRCh38
NC_000005.9:g.148406382A>G , CM000667.1:g.148406382A>G	GRCh37
NC_000005.8:g.148386575A>G	NCBI36
NG_007947.2:g.41356T>C , LRG_269:g.41356T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2768+41T>C
ENST00000515425.6:c.2872+41T>C MANE Select	ENSP00000423660.1:n.2872+41T>C
ENST00000675793.1:c.*2156+41T>C	ENSP00000502039.1:n.*2156+41T>C
ENST00000676056.1:c.*2382+41T>C	ENSP00000501827.1:n.*2382+41T>C
ENST00000323829.9:c.*2260+41T>C	ENSP00000313025.5:n.*2260+41T>C
ENST00000504517.5:c.2402+41T>C	ENSP00000421779.1:n.2402+41T>C
ENST00000504690.5:c.2872+41T>C	ENSP00000425627.1:n.2872+41T>C
ENST00000510779.1:c.1922+41T>C
ENST00000511307.5:c.*2693T>C	ENSP00000421420.1:n.*2693T>C
ENST00000512049.5:c.2851+41T>C	ENSP00000421860.1:n.2851+41T>C
ENST00000513604.5:c.*2301T>C	ENSP00000423111.1:n.*2301T>C
ENST00000515425.5:c.2872+41T>C	ENSP00000423660.1:n.2872+41T>C
NM_024577.3:c.2872+41T>C , LRG_269t1:c.2872+41T>C	NP_078853.2:n.2872+41T>C
NM_024577.4:c.2872+41T>C MANE Select	NP_078853.2:n.2872+41T>C