Canonical Allele Identifier: CA3498873

Gene: SH3TC2

Linked Data

• dbSNP Id: rs745562677
• ExAC: 5:148406155 A / G
• gnomAD v3: 5-149026592-A-G
• gnomAD v4: 5-149026592-A-G
• MyVariant Identifiers: chr5:g.148406155A>G (hg19) ; chr5:g.149026592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026592A>G , CM000667.2:g.149026592A>G	GRCh38
NC_000005.9:g.148406155A>G , CM000667.1:g.148406155A>G	GRCh37
NC_000005.8:g.148386348A>G	NCBI36
NG_007947.2:g.41583T>C , LRG_269:g.41583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2929T>C
ENST00000515425.6:c.3033T>C MANE Select	ENSP00000423660.1:p.Tyr1011=
ENST00000675793.1:c.*2317T>C	ENSP00000502039.1:n.*2317T>C
ENST00000676056.1:c.*2543T>C	ENSP00000501827.1:n.*2543T>C
ENST00000323829.9:c.*2421T>C	ENSP00000313025.5:n.*2421T>C
ENST00000504517.5:c.2563T>C	ENSP00000421779.1:n.2563T>C
ENST00000504690.5:c.3033T>C	ENSP00000425627.1:p.Tyr1011=
ENST00000510779.1:c.2083T>C
ENST00000511307.5:c.*2920T>C	ENSP00000421420.1:n.*2920T>C
ENST00000512049.5:c.3012T>C	ENSP00000421860.1:p.Tyr1004=
ENST00000513604.5:c.*2528T>C	ENSP00000423111.1:n.*2528T>C
ENST00000515425.5:c.3033T>C	ENSP00000423660.1:p.Tyr1011=
NM_024577.3:c.3033T>C , LRG_269t1:c.3033T>C	NP_078853.2:p.Tyr1011=
NM_024577.4:c.3033T>C MANE Select	NP_078853.2:p.Tyr1011=