Canonical Allele Identifier: CA361665162

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1937489
• ClinVar RCV Id: RCV002653292
• gnomAD v4: 5-149026630-T-C
• MyVariant Identifiers: chr5:g.148406193T>C (hg19) ; chr5:g.149026630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026630T>C , CM000667.2:g.149026630T>C	GRCh38
NC_000005.9:g.148406193T>C , CM000667.1:g.148406193T>C	GRCh37
NC_000005.8:g.148386386T>C	NCBI36
NG_007947.2:g.41545A>G , LRG_269:g.41545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2891A>G
ENST00000515425.6:c.2995A>G MANE Select	ENSP00000423660.1:p.Met999Val
ENST00000675793.1:c.*2279A>G	ENSP00000502039.1:n.*2279A>G
ENST00000676056.1:c.*2505A>G	ENSP00000501827.1:n.*2505A>G
ENST00000323829.9:c.*2383A>G	ENSP00000313025.5:n.*2383A>G
ENST00000504517.5:c.2525A>G	ENSP00000421779.1:n.2525A>G
ENST00000504690.5:c.2995A>G	ENSP00000425627.1:p.Met999Val
ENST00000510779.1:c.2045A>G
ENST00000511307.5:c.*2882A>G	ENSP00000421420.1:n.*2882A>G
ENST00000512049.5:c.2974A>G	ENSP00000421860.1:p.Met992Val
ENST00000513604.5:c.*2490A>G	ENSP00000423111.1:n.*2490A>G
ENST00000515425.5:c.2995A>G	ENSP00000423660.1:p.Met999Val
NM_024577.3:c.2995A>G , LRG_269t1:c.2995A>G	NP_078853.2:p.Met999Val
NM_024577.4:c.2995A>G MANE Select	NP_078853.2:p.Met999Val