Canonical Allele Identifier: CA805451551

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1366184221
• gnomAD v4: 5-149008604-T-C
• MyVariant Identifiers: chr5:g.148388167T>C (hg19) ; chr5:g.149008604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008604T>C , CM000667.2:g.149008604T>C	GRCh38
NC_000005.9:g.148388167T>C , CM000667.1:g.148388167T>C	GRCh37
NC_000005.8:g.148368360T>C	NCBI36
NG_007947.2:g.59571A>G , LRG_269:g.59571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+247A>G
ENST00000515425.6:c.3478+247A>G MANE Select	ENSP00000423660.1:n.3478+247A>G
ENST00000675793.1:c.*3009A>G	ENSP00000502039.1:n.*3009A>G
ENST00000323829.9:c.*2866+247A>G	ENSP00000313025.5:n.*2866+247A>G
ENST00000502274.1:c.-1463A>G	ENSP00000421092.1:n.-1463A>G
ENST00000504517.5:c.3008+247A>G	ENSP00000421779.1:n.3008+247A>G
ENST00000504690.5:c.3478+247A>G	ENSP00000425627.1:n.3478+247A>G
ENST00000510779.1:c.2528+247A>G
ENST00000512049.5:c.3457+247A>G	ENSP00000421860.1:n.3457+247A>G
ENST00000515229.5:n.140+247A>G
ENST00000515425.5:c.3478+247A>G	ENSP00000423660.1:n.3478+247A>G
NM_024577.3:c.3478+247A>G , LRG_269t1:c.3478+247A>G	NP_078853.2:n.3478+247A>G
NM_024577.4:c.3478+247A>G MANE Select	NP_078853.2:n.3478+247A>G