Canonical Allele Identifier: CA361664019

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2199556
• ClinVar RCV Id: RCV002659685
• dbSNP Id: rs764665807
• gnomAD v4: 5-149006949-G-T
• MyVariant Identifiers: chr5:g.148386512G>T (hg19) ; chr5:g.149006949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006949G>T , CM000667.2:g.149006949G>T	GRCh38
NC_000005.9:g.148386512G>T , CM000667.1:g.148386512G>T	GRCh37
NC_000005.8:g.148366705G>T	NCBI36
NG_007947.2:g.61226C>A , LRG_269:g.61226C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4460C>A
ENST00000515425.6:c.3607C>A MANE Select	ENSP00000423660.1:p.Pro1203Thr
ENST00000675793.1:c.*4664C>A	ENSP00000502039.1:n.*4664C>A
ENST00000323829.9:c.*2995C>A	ENSP00000313025.5:n.*2995C>A
ENST00000502274.1:c.193C>A	ENSP00000421092.1:p.Pro65Thr
ENST00000504517.5:c.3129C>A	ENSP00000421779.1:n.3129C>A
ENST00000504690.5:c.3607C>A	ENSP00000425627.1:p.Pro1203Thr
ENST00000510350.1:n.163C>A
ENST00000510779.1:c.2657C>A
ENST00000512049.5:c.3586C>A	ENSP00000421860.1:p.Pro1196Thr
ENST00000515229.5:n.269C>A
ENST00000515425.5:c.3607C>A	ENSP00000423660.1:p.Pro1203Thr
NM_024577.3:c.3607C>A , LRG_269t1:c.3607C>A	NP_078853.2:p.Pro1203Thr
NM_024577.4:c.3607C>A MANE Select	NP_078853.2:p.Pro1203Thr