Canonical Allele Identifier: CA2739865871

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026771C>A , CM000667.2:g.149026771C>A	GRCh38
NC_000005.9:g.148406334C>A , CM000667.1:g.148406334C>A	GRCh37
NC_000005.8:g.148386527C>A	NCBI36
NG_007947.2:g.41404G>T , LRG_269:g.41404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2769-19G>T
ENST00000515425.6:c.2873-19G>T MANE Select	ENSP00000423660.1:n.2873-19G>T
ENST00000675793.1:c.*2157-19G>T	ENSP00000502039.1:n.*2157-19G>T
ENST00000676056.1:c.*2383-19G>T	ENSP00000501827.1:n.*2383-19G>T
ENST00000323829.9:c.*2261-19G>T	ENSP00000313025.5:n.*2261-19G>T
ENST00000504517.5:c.2403-19G>T	ENSP00000421779.1:n.2403-19G>T
ENST00000504690.5:c.2873-19G>T	ENSP00000425627.1:n.2873-19G>T
ENST00000510779.1:c.1923-19G>T
ENST00000511307.5:c.*2741G>T	ENSP00000421420.1:n.*2741G>T
ENST00000512049.5:c.2852-19G>T	ENSP00000421860.1:n.2852-19G>T
ENST00000513604.5:c.*2349G>T	ENSP00000423111.1:n.*2349G>T
ENST00000515425.5:c.2873-19G>T	ENSP00000423660.1:n.2873-19G>T
NM_024577.3:c.2873-19G>T , LRG_269t1:c.2873-19G>T	NP_078853.2:n.2873-19G>T
NM_024577.4:c.2873-19G>T MANE Select	NP_078853.2:n.2873-19G>T