Canonical Allele Identifier: CA361664530

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149008892-A-G
• MyVariant Identifiers: chr5:g.148388455A>G (hg19) ; chr5:g.149008892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008892A>G , CM000667.2:g.149008892A>G	GRCh38
NC_000005.9:g.148388455A>G , CM000667.1:g.148388455A>G	GRCh37
NC_000005.8:g.148368648A>G	NCBI36
NG_007947.2:g.59283T>C , LRG_269:g.59283T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3333T>C
ENST00000515425.6:c.3437T>C MANE Select	ENSP00000423660.1:p.Leu1146Ser
ENST00000675793.1:c.*2721T>C	ENSP00000502039.1:n.*2721T>C
ENST00000323829.9:c.*2825T>C	ENSP00000313025.5:n.*2825T>C
ENST00000504517.5:c.2967T>C	ENSP00000421779.1:n.2967T>C
ENST00000504690.5:c.3437T>C	ENSP00000425627.1:p.Leu1146Ser
ENST00000510779.1:c.2487T>C
ENST00000512049.5:c.3416T>C	ENSP00000421860.1:p.Leu1139Ser
ENST00000515229.5:n.99T>C
ENST00000515425.5:c.3437T>C	ENSP00000423660.1:p.Leu1146Ser
NM_024577.3:c.3437T>C , LRG_269t1:c.3437T>C	NP_078853.2:p.Leu1146Ser
NM_024577.4:c.3437T>C MANE Select	NP_078853.2:p.Leu1146Ser