Canonical Allele Identifier: CA361667413

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407355C>G (hg19) ; chr5:g.149027792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027792C>G , CM000667.2:g.149027792C>G	GRCh38
NC_000005.9:g.148407355C>G , CM000667.1:g.148407355C>G	GRCh37
NC_000005.8:g.148387548C>G	NCBI36
NG_007947.2:g.40383G>C , LRG_269:g.40383G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1836G>C
ENST00000515425.6:c.1940G>C MANE Select	ENSP00000423660.1:p.Gly647Ala
ENST00000675793.1:c.*1224G>C	ENSP00000502039.1:n.*1224G>C
ENST00000676056.1:c.*1450G>C	ENSP00000501827.1:n.*1450G>C
ENST00000323829.9:c.*1328G>C	ENSP00000313025.5:n.*1328G>C
ENST00000504517.5:c.1470G>C	ENSP00000421779.1:n.1470G>C
ENST00000504690.5:c.1940G>C	ENSP00000425627.1:p.Gly647Ala
ENST00000510779.1:c.990G>C
ENST00000511307.5:c.*1720G>C	ENSP00000421420.1:n.*1720G>C
ENST00000512049.5:c.1919G>C	ENSP00000421860.1:p.Gly640Ala
ENST00000513604.5:c.*1328G>C	ENSP00000423111.1:n.*1328G>C
ENST00000515425.5:c.1940G>C	ENSP00000423660.1:p.Gly647Ala
NM_024577.3:c.1940G>C , LRG_269t1:c.1940G>C	NP_078853.2:p.Gly647Ala
NM_024577.4:c.1940G>C MANE Select	NP_078853.2:p.Gly647Ala