Canonical Allele Identifier: CA361665230

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406225A>G (hg19) ; chr5:g.149026662A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026662A>G , CM000667.2:g.149026662A>G	GRCh38
NC_000005.9:g.148406225A>G , CM000667.1:g.148406225A>G	GRCh37
NC_000005.8:g.148386418A>G	NCBI36
NG_007947.2:g.41513T>C , LRG_269:g.41513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2859T>C
ENST00000515425.6:c.2963T>C MANE Select	ENSP00000423660.1:p.Leu988Pro
ENST00000675793.1:c.*2247T>C	ENSP00000502039.1:n.*2247T>C
ENST00000676056.1:c.*2473T>C	ENSP00000501827.1:n.*2473T>C
ENST00000323829.9:c.*2351T>C	ENSP00000313025.5:n.*2351T>C
ENST00000504517.5:c.2493T>C	ENSP00000421779.1:n.2493T>C
ENST00000504690.5:c.2963T>C	ENSP00000425627.1:p.Leu988Pro
ENST00000510779.1:c.2013T>C
ENST00000511307.5:c.*2850T>C	ENSP00000421420.1:n.*2850T>C
ENST00000512049.5:c.2942T>C	ENSP00000421860.1:p.Leu981Pro
ENST00000513604.5:c.*2458T>C	ENSP00000423111.1:n.*2458T>C
ENST00000515425.5:c.2963T>C	ENSP00000423660.1:p.Leu988Pro
NM_024577.3:c.2963T>C , LRG_269t1:c.2963T>C	NP_078853.2:p.Leu988Pro
NM_024577.4:c.2963T>C MANE Select	NP_078853.2:p.Leu988Pro