Canonical Allele Identifier: CA361665115

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406169G>C (hg19) ; chr5:g.149026606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026606G>C , CM000667.2:g.149026606G>C	GRCh38
NC_000005.9:g.148406169G>C , CM000667.1:g.148406169G>C	GRCh37
NC_000005.8:g.148386362G>C	NCBI36
NG_007947.2:g.41569C>G , LRG_269:g.41569C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2915C>G
ENST00000515425.6:c.3019C>G MANE Select	ENSP00000423660.1:p.Leu1007Val
ENST00000675793.1:c.*2303C>G	ENSP00000502039.1:n.*2303C>G
ENST00000676056.1:c.*2529C>G	ENSP00000501827.1:n.*2529C>G
ENST00000323829.9:c.*2407C>G	ENSP00000313025.5:n.*2407C>G
ENST00000504517.5:c.2549C>G	ENSP00000421779.1:n.2549C>G
ENST00000504690.5:c.3019C>G	ENSP00000425627.1:p.Leu1007Val
ENST00000510779.1:c.2069C>G
ENST00000511307.5:c.*2906C>G	ENSP00000421420.1:n.*2906C>G
ENST00000512049.5:c.2998C>G	ENSP00000421860.1:p.Leu1000Val
ENST00000513604.5:c.*2514C>G	ENSP00000423111.1:n.*2514C>G
ENST00000515425.5:c.3019C>G	ENSP00000423660.1:p.Leu1007Val
NM_024577.3:c.3019C>G , LRG_269t1:c.3019C>G	NP_078853.2:p.Leu1007Val
NM_024577.4:c.3019C>G MANE Select	NP_078853.2:p.Leu1007Val