Canonical Allele Identifier: CA3498911

Gene: SH3TC2

Linked Data

• dbSNP Id: rs376815272
• ExAC: 5:148406374 G / C
• gnomAD v2: 5-148406374-G-C
• gnomAD v4: 5-149026811-G-C
• MyVariant Identifiers: chr5:g.148406374G>C (hg19) ; chr5:g.149026811G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026811G>C , CM000667.2:g.149026811G>C	GRCh38
NC_000005.9:g.148406374G>C , CM000667.1:g.148406374G>C	GRCh37
NC_000005.8:g.148386567G>C	NCBI36
NG_007947.2:g.41364C>G , LRG_269:g.41364C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2768+49C>G
ENST00000515425.6:c.2872+49C>G MANE Select	ENSP00000423660.1:n.2872+49C>G
ENST00000675793.1:c.*2156+49C>G	ENSP00000502039.1:n.*2156+49C>G
ENST00000676056.1:c.*2382+49C>G	ENSP00000501827.1:n.*2382+49C>G
ENST00000323829.9:c.*2260+49C>G	ENSP00000313025.5:n.*2260+49C>G
ENST00000504517.5:c.2402+49C>G	ENSP00000421779.1:n.2402+49C>G
ENST00000504690.5:c.2872+49C>G	ENSP00000425627.1:n.2872+49C>G
ENST00000510779.1:c.1922+49C>G
ENST00000511307.5:c.*2701C>G	ENSP00000421420.1:n.*2701C>G
ENST00000512049.5:c.2851+49C>G	ENSP00000421860.1:n.2851+49C>G
ENST00000513604.5:c.*2309C>G	ENSP00000423111.1:n.*2309C>G
ENST00000515425.5:c.2872+49C>G	ENSP00000423660.1:n.2872+49C>G
NM_024577.3:c.2872+49C>G , LRG_269t1:c.2872+49C>G	NP_078853.2:n.2872+49C>G
NM_024577.4:c.2872+49C>G MANE Select	NP_078853.2:n.2872+49C>G