Canonical Allele Identifier: CA361665063

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1209299386
• gnomAD v3: 5-149026581-T-C
• gnomAD v4: 5-149026581-T-C
• MyVariant Identifiers: chr5:g.148406144T>C (hg19) ; chr5:g.149026581T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026581T>C , CM000667.2:g.149026581T>C	GRCh38
NC_000005.9:g.148406144T>C , CM000667.1:g.148406144T>C	GRCh37
NC_000005.8:g.148386337T>C	NCBI36
NG_007947.2:g.41594A>G , LRG_269:g.41594A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2940A>G
ENST00000515425.6:c.3044A>G MANE Select	ENSP00000423660.1:p.Asn1015Ser
ENST00000675793.1:c.*2328A>G	ENSP00000502039.1:n.*2328A>G
ENST00000676056.1:c.*2554A>G	ENSP00000501827.1:n.*2554A>G
ENST00000323829.9:c.*2432A>G	ENSP00000313025.5:n.*2432A>G
ENST00000504517.5:c.2574A>G	ENSP00000421779.1:n.2574A>G
ENST00000504690.5:c.3044A>G	ENSP00000425627.1:p.Asn1015Ser
ENST00000510779.1:c.2094A>G
ENST00000511307.5:c.*2931A>G	ENSP00000421420.1:n.*2931A>G
ENST00000512049.5:c.3023A>G	ENSP00000421860.1:p.Asn1008Ser
ENST00000513604.5:c.*2539A>G	ENSP00000423111.1:n.*2539A>G
ENST00000515425.5:c.3044A>G	ENSP00000423660.1:p.Asn1015Ser
NM_024577.3:c.3044A>G , LRG_269t1:c.3044A>G	NP_078853.2:p.Asn1015Ser
NM_024577.4:c.3044A>G MANE Select	NP_078853.2:p.Asn1015Ser