Canonical Allele Identifier: CA361672105

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148417856A>C (hg19) ; chr5:g.149038293A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149038293A>C , CM000667.2:g.149038293A>C	GRCh38
NC_000005.9:g.148417856A>C , CM000667.1:g.148417856A>C	GRCh37
NC_000005.8:g.148398049A>C	NCBI36
NG_007947.2:g.29882T>G , LRG_269:g.29882T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.891+2T>G
ENST00000515425.6:c.1001+2T>G MANE Select	ENSP00000423660.1:n.1001+2T>G
ENST00000674655.1:c.263+2T>G	ENSP00000502840.1:n.263+2T>G
ENST00000674983.1:c.*259+2T>G	ENSP00000502387.1:n.*259+2T>G
ENST00000675793.1:c.1001+2T>G	ENSP00000502039.1:n.1001+2T>G
ENST00000676056.1:c.*259+2T>G	ENSP00000501827.1:n.*259+2T>G
ENST00000323829.9:c.*259+2T>G	ENSP00000313025.5:n.*259+2T>G
ENST00000503071.1:n.468+2T>G
ENST00000504517.5:c.401+2T>G	ENSP00000421779.1:n.401+2T>G
ENST00000504690.5:c.1001+2T>G	ENSP00000425627.1:n.1001+2T>G
ENST00000511307.5:c.*781+2T>G	ENSP00000421420.1:n.*781+2T>G
ENST00000512049.5:c.980+2T>G	ENSP00000421860.1:n.980+2T>G
ENST00000513604.5:c.*259+2T>G	ENSP00000423111.1:n.*259+2T>G
ENST00000515425.5:c.1001+2T>G	ENSP00000423660.1:n.1001+2T>G
NM_024577.3:c.1001+2T>G , LRG_269t1:c.1001+2T>G	NP_078853.2:n.1001+2T>G
NM_024577.4:c.1001+2T>G MANE Select	NP_078853.2:n.1001+2T>G