Canonical Allele Identifier: CA3498765

Gene: SH3TC2

Linked Data

• dbSNP Id: rs367992641
• ExAC: 5:148388587 C / G
• gnomAD v2: 5-148388587-C-G
• gnomAD v3: 5-149009024-C-G
• gnomAD v4: 5-149009024-C-G
• MyVariant Identifiers: chr5:g.148388587C>G (hg19) ; chr5:g.149009024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149009024C>G , CM000667.2:g.149009024C>G	GRCh38
NC_000005.9:g.148388587C>G , CM000667.1:g.148388587C>G	GRCh37
NC_000005.8:g.148368780C>G	NCBI36
NG_007947.2:g.59151G>C , LRG_269:g.59151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3224-23G>C
ENST00000515425.6:c.3328-23G>C MANE Select	ENSP00000423660.1:n.3328-23G>C
ENST00000675793.1:c.*2612-23G>C	ENSP00000502039.1:n.*2612-23G>C
ENST00000323829.9:c.*2716-23G>C	ENSP00000313025.5:n.*2716-23G>C
ENST00000504517.5:c.2858-23G>C	ENSP00000421779.1:n.2858-23G>C
ENST00000504690.5:c.3328-23G>C	ENSP00000425627.1:n.3328-23G>C
ENST00000510779.1:c.2378-23G>C
ENST00000512049.5:c.3307-23G>C	ENSP00000421860.1:n.3307-23G>C
ENST00000515425.5:c.3328-23G>C	ENSP00000423660.1:n.3328-23G>C
NM_024577.3:c.3328-23G>C , LRG_269t1:c.3328-23G>C	NP_078853.2:n.3328-23G>C
NM_024577.4:c.3328-23G>C MANE Select	NP_078853.2:n.3328-23G>C