Canonical Allele Identifier: CA3499536

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 543417
• ClinVar RCV Id: RCV000654175
• dbSNP Id: rs773554464
• ExAC: 5:148424094 A / G
• gnomAD v2: 5-148424094-A-G
• gnomAD v4: 5-149044531-A-G
• MyVariant Identifiers: chr5:g.148424094A>G (hg19) ; chr5:g.149044531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149044531A>G , CM000667.2:g.149044531A>G	GRCh38
NC_000005.9:g.148424094A>G , CM000667.1:g.148424094A>G	GRCh37
NC_000005.8:g.148404287A>G	NCBI36
NG_007947.2:g.23644T>C , LRG_269:g.23644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.333+2T>C
ENST00000515425.6:c.385+2T>C MANE Select	ENSP00000423660.1:n.385+2T>C
ENST00000674983.1:c.385+2T>C	ENSP00000502387.1:n.385+2T>C
ENST00000675793.1:c.385+2T>C	ENSP00000502039.1:n.385+2T>C
ENST00000676056.1:c.385+2T>C	ENSP00000501827.1:n.385+2T>C
ENST00000323829.9:c.385+2T>C	ENSP00000313025.5:n.385+2T>C
ENST00000504091.1:n.3646T>C
ENST00000504690.5:c.385+2T>C	ENSP00000425627.1:n.385+2T>C
ENST00000511307.5:c.*165+2T>C	ENSP00000421420.1:n.*165+2T>C
ENST00000511949.5:n.455+2T>C
ENST00000512049.5:c.385+2T>C	ENSP00000421860.1:n.385+2T>C
ENST00000513604.5:c.385+2T>C	ENSP00000423111.1:n.385+2T>C
ENST00000515425.5:c.385+2T>C	ENSP00000423660.1:n.385+2T>C
NM_024577.3:c.385+2T>C , LRG_269t1:c.385+2T>C	NP_078853.2:n.385+2T>C
NM_024577.4:c.385+2T>C MANE Select	NP_078853.2:n.385+2T>C