Canonical Allele Identifier: CA805451562

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1366899379
• gnomAD v4: 5-149008626-A-C
• MyVariant Identifiers: chr5:g.148388189A>C (hg19) ; chr5:g.149008626A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008626A>C , CM000667.2:g.149008626A>C	GRCh38
NC_000005.9:g.148388189A>C , CM000667.1:g.148388189A>C	GRCh37
NC_000005.8:g.148368382A>C	NCBI36
NG_007947.2:g.59549T>G , LRG_269:g.59549T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+225T>G
ENST00000515425.6:c.3478+225T>G MANE Select	ENSP00000423660.1:n.3478+225T>G
ENST00000675793.1:c.*2987T>G	ENSP00000502039.1:n.*2987T>G
ENST00000323829.9:c.*2866+225T>G	ENSP00000313025.5:n.*2866+225T>G
ENST00000504517.5:c.3008+225T>G	ENSP00000421779.1:n.3008+225T>G
ENST00000504690.5:c.3478+225T>G	ENSP00000425627.1:n.3478+225T>G
ENST00000510779.1:c.2528+225T>G
ENST00000512049.5:c.3457+225T>G	ENSP00000421860.1:n.3457+225T>G
ENST00000515229.5:n.140+225T>G
ENST00000515425.5:c.3478+225T>G	ENSP00000423660.1:n.3478+225T>G
NM_024577.3:c.3478+225T>G , LRG_269t1:c.3478+225T>G	NP_078853.2:n.3478+225T>G
NM_024577.4:c.3478+225T>G MANE Select	NP_078853.2:n.3478+225T>G