Canonical Allele Identifier: CA3498754

Gene: SH3TC2

Linked Data

• dbSNP Id: rs766304299
• ExAC: 5:148388502 A / C
• gnomAD v2: 5-148388502-A-C
• gnomAD v4: 5-149008939-A-C
• MyVariant Identifiers: chr5:g.148388502A>C (hg19) ; chr5:g.149008939A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008939A>C , CM000667.2:g.149008939A>C	GRCh38
NC_000005.9:g.148388502A>C , CM000667.1:g.148388502A>C	GRCh37
NC_000005.8:g.148368695A>C	NCBI36
NG_007947.2:g.59236T>G , LRG_269:g.59236T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3286T>G
ENST00000515425.6:c.3390T>G MANE Select	ENSP00000423660.1:p.Asn1130Lys
ENST00000675793.1:c.*2674T>G	ENSP00000502039.1:n.*2674T>G
ENST00000323829.9:c.*2778T>G	ENSP00000313025.5:n.*2778T>G
ENST00000504517.5:c.2920T>G	ENSP00000421779.1:n.2920T>G
ENST00000504690.5:c.3390T>G	ENSP00000425627.1:p.Asn1130Lys
ENST00000510779.1:c.2440T>G
ENST00000512049.5:c.3369T>G	ENSP00000421860.1:p.Asn1123Lys
ENST00000515229.5:n.52T>G
ENST00000515425.5:c.3390T>G	ENSP00000423660.1:p.Asn1130Lys
NM_024577.3:c.3390T>G , LRG_269t1:c.3390T>G	NP_078853.2:p.Asn1130Lys
NM_024577.4:c.3390T>G MANE Select	NP_078853.2:p.Asn1130Lys