Canonical Allele Identifier: CA361665224

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406222G>A (hg19) ; chr5:g.149026659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026659G>A , CM000667.2:g.149026659G>A	GRCh38
NC_000005.9:g.148406222G>A , CM000667.1:g.148406222G>A	GRCh37
NC_000005.8:g.148386415G>A	NCBI36
NG_007947.2:g.41516C>T , LRG_269:g.41516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2862C>T
ENST00000515425.6:c.2966C>T MANE Select	ENSP00000423660.1:p.Ala989Val
ENST00000675793.1:c.*2250C>T	ENSP00000502039.1:n.*2250C>T
ENST00000676056.1:c.*2476C>T	ENSP00000501827.1:n.*2476C>T
ENST00000323829.9:c.*2354C>T	ENSP00000313025.5:n.*2354C>T
ENST00000504517.5:c.2496C>T	ENSP00000421779.1:n.2496C>T
ENST00000504690.5:c.2966C>T	ENSP00000425627.1:p.Ala989Val
ENST00000510779.1:c.2016C>T
ENST00000511307.5:c.*2853C>T	ENSP00000421420.1:n.*2853C>T
ENST00000512049.5:c.2945C>T	ENSP00000421860.1:p.Ala982Val
ENST00000513604.5:c.*2461C>T	ENSP00000423111.1:n.*2461C>T
ENST00000515425.5:c.2966C>T	ENSP00000423660.1:p.Ala989Val
NM_024577.3:c.2966C>T , LRG_269t1:c.2966C>T	NP_078853.2:p.Ala989Val
NM_024577.4:c.2966C>T MANE Select	NP_078853.2:p.Ala989Val