Canonical Allele Identifier: CA128983247

Gene: SH3TC2

Linked Data

• dbSNP Id: rs945990567
• gnomAD v4: 5-149026589-C-G
• MyVariant Identifiers: chr5:g.148406152C>G (hg19) ; chr5:g.149026589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026589C>G , CM000667.2:g.149026589C>G	GRCh38
NC_000005.9:g.148406152C>G , CM000667.1:g.148406152C>G	GRCh37
NC_000005.8:g.148386345C>G	NCBI36
NG_007947.2:g.41586G>C , LRG_269:g.41586G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2932G>C
ENST00000515425.6:c.3036G>C MANE Select	ENSP00000423660.1:p.Arg1012=
ENST00000675793.1:c.*2320G>C	ENSP00000502039.1:n.*2320G>C
ENST00000676056.1:c.*2546G>C	ENSP00000501827.1:n.*2546G>C
ENST00000323829.9:c.*2424G>C	ENSP00000313025.5:n.*2424G>C
ENST00000504517.5:c.2566G>C	ENSP00000421779.1:n.2566G>C
ENST00000504690.5:c.3036G>C	ENSP00000425627.1:p.Arg1012=
ENST00000510779.1:c.2086G>C
ENST00000511307.5:c.*2923G>C	ENSP00000421420.1:n.*2923G>C
ENST00000512049.5:c.3015G>C	ENSP00000421860.1:p.Arg1005=
ENST00000513604.5:c.*2531G>C	ENSP00000423111.1:n.*2531G>C
ENST00000515425.5:c.3036G>C	ENSP00000423660.1:p.Arg1012=
NM_024577.3:c.3036G>C , LRG_269t1:c.3036G>C	NP_078853.2:p.Arg1012=
NM_024577.4:c.3036G>C MANE Select	NP_078853.2:p.Arg1012=