Canonical Allele Identifier: CA361665066

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406145T>C (hg19) ; chr5:g.149026582T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026582T>C , CM000667.2:g.149026582T>C	GRCh38
NC_000005.9:g.148406145T>C , CM000667.1:g.148406145T>C	GRCh37
NC_000005.8:g.148386338T>C	NCBI36
NG_007947.2:g.41593A>G , LRG_269:g.41593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2939A>G
ENST00000515425.6:c.3043A>G MANE Select	ENSP00000423660.1:p.Asn1015Asp
ENST00000675793.1:c.*2327A>G	ENSP00000502039.1:n.*2327A>G
ENST00000676056.1:c.*2553A>G	ENSP00000501827.1:n.*2553A>G
ENST00000323829.9:c.*2431A>G	ENSP00000313025.5:n.*2431A>G
ENST00000504517.5:c.2573A>G	ENSP00000421779.1:n.2573A>G
ENST00000504690.5:c.3043A>G	ENSP00000425627.1:p.Asn1015Asp
ENST00000510779.1:c.2093A>G
ENST00000511307.5:c.*2930A>G	ENSP00000421420.1:n.*2930A>G
ENST00000512049.5:c.3022A>G	ENSP00000421860.1:p.Asn1008Asp
ENST00000513604.5:c.*2538A>G	ENSP00000423111.1:n.*2538A>G
ENST00000515425.5:c.3043A>G	ENSP00000423660.1:p.Asn1015Asp
NM_024577.3:c.3043A>G , LRG_269t1:c.3043A>G	NP_078853.2:p.Asn1015Asp
NM_024577.4:c.3043A>G MANE Select	NP_078853.2:p.Asn1015Asp