Canonical Allele Identifier: CA361665219

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406219A>C (hg19) ; chr5:g.149026656A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026656A>C , CM000667.2:g.149026656A>C	GRCh38
NC_000005.9:g.148406219A>C , CM000667.1:g.148406219A>C	GRCh37
NC_000005.8:g.148386412A>C	NCBI36
NG_007947.2:g.41519T>G , LRG_269:g.41519T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2865T>G
ENST00000515425.6:c.2969T>G MANE Select	ENSP00000423660.1:p.Leu990Arg
ENST00000675793.1:c.*2253T>G	ENSP00000502039.1:n.*2253T>G
ENST00000676056.1:c.*2479T>G	ENSP00000501827.1:n.*2479T>G
ENST00000323829.9:c.*2357T>G	ENSP00000313025.5:n.*2357T>G
ENST00000504517.5:c.2499T>G	ENSP00000421779.1:n.2499T>G
ENST00000504690.5:c.2969T>G	ENSP00000425627.1:p.Leu990Arg
ENST00000510779.1:c.2019T>G
ENST00000511307.5:c.*2856T>G	ENSP00000421420.1:n.*2856T>G
ENST00000512049.5:c.2948T>G	ENSP00000421860.1:p.Leu983Arg
ENST00000513604.5:c.*2464T>G	ENSP00000423111.1:n.*2464T>G
ENST00000515425.5:c.2969T>G	ENSP00000423660.1:p.Leu990Arg
NM_024577.3:c.2969T>G , LRG_269t1:c.2969T>G	NP_078853.2:p.Leu990Arg
NM_024577.4:c.2969T>G MANE Select	NP_078853.2:p.Leu990Arg