Canonical Allele Identifier: CA361666861

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1976569
• ClinVar RCV Id: RCV002731482
• MyVariant Identifiers: chr5:g.148407094G>A (hg19) ; chr5:g.149027531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027531G>A , CM000667.2:g.149027531G>A	GRCh38
NC_000005.9:g.148407094G>A , CM000667.1:g.148407094G>A	GRCh37
NC_000005.8:g.148387287G>A	NCBI36
NG_007947.2:g.40644C>T , LRG_269:g.40644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2097C>T
ENST00000515425.6:c.2201C>T MANE Select	ENSP00000423660.1:p.Ala734Val
ENST00000675793.1:c.*1485C>T	ENSP00000502039.1:n.*1485C>T
ENST00000676056.1:c.*1711C>T	ENSP00000501827.1:n.*1711C>T
ENST00000323829.9:c.*1589C>T	ENSP00000313025.5:n.*1589C>T
ENST00000504517.5:c.1731C>T	ENSP00000421779.1:n.1731C>T
ENST00000504690.5:c.2201C>T	ENSP00000425627.1:p.Ala734Val
ENST00000510779.1:c.1251C>T
ENST00000511307.5:c.*1981C>T	ENSP00000421420.1:n.*1981C>T
ENST00000512049.5:c.2180C>T	ENSP00000421860.1:p.Ala727Val
ENST00000513604.5:c.*1589C>T	ENSP00000423111.1:n.*1589C>T
ENST00000515425.5:c.2201C>T	ENSP00000423660.1:p.Ala734Val
NM_024577.3:c.2201C>T , LRG_269t1:c.2201C>T	NP_078853.2:p.Ala734Val
NM_024577.4:c.2201C>T MANE Select	NP_078853.2:p.Ala734Val