Canonical Allele Identifier: CA563955079

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1406474689
• gnomAD v2: 5-148406093-G-A
• gnomAD v4: 5-149026530-G-A
• MyVariant Identifiers: chr5:g.148406093G>A (hg19) ; chr5:g.149026530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026530G>A , CM000667.2:g.149026530G>A	GRCh38
NC_000005.9:g.148406093G>A , CM000667.1:g.148406093G>A	GRCh37
NC_000005.8:g.148386286G>A	NCBI36
NG_007947.2:g.41645C>T , LRG_269:g.41645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2949+42C>T
ENST00000515425.6:c.3053+42C>T MANE Select	ENSP00000423660.1:n.3053+42C>T
ENST00000675793.1:c.*2337+42C>T	ENSP00000502039.1:n.*2337+42C>T
ENST00000676056.1:c.*2563+42C>T	ENSP00000501827.1:n.*2563+42C>T
ENST00000323829.9:c.*2441+42C>T	ENSP00000313025.5:n.*2441+42C>T
ENST00000504517.5:c.2583+42C>T	ENSP00000421779.1:n.2583+42C>T
ENST00000504690.5:c.3053+42C>T	ENSP00000425627.1:n.3053+42C>T
ENST00000510779.1:c.2103+42C>T
ENST00000512049.5:c.3032+42C>T	ENSP00000421860.1:n.3032+42C>T
ENST00000513604.5:c.*2590C>T	ENSP00000423111.1:n.*2590C>T
ENST00000515425.5:c.3053+42C>T	ENSP00000423660.1:n.3053+42C>T
NM_024577.3:c.3053+42C>T , LRG_269t1:c.3053+42C>T	NP_078853.2:n.3053+42C>T
NM_024577.4:c.3053+42C>T MANE Select	NP_078853.2:n.3053+42C>T