Canonical Allele Identifier: CA361667465

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407382A>G (hg19) ; chr5:g.149027819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027819A>G , CM000667.2:g.149027819A>G	GRCh38
NC_000005.9:g.148407382A>G , CM000667.1:g.148407382A>G	GRCh37
NC_000005.8:g.148387575A>G	NCBI36
NG_007947.2:g.40356T>C , LRG_269:g.40356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1809T>C
ENST00000515425.6:c.1913T>C MANE Select	ENSP00000423660.1:p.Leu638Pro
ENST00000675793.1:c.*1197T>C	ENSP00000502039.1:n.*1197T>C
ENST00000676056.1:c.*1423T>C	ENSP00000501827.1:n.*1423T>C
ENST00000323829.9:c.*1301T>C	ENSP00000313025.5:n.*1301T>C
ENST00000504517.5:c.1443T>C	ENSP00000421779.1:n.1443T>C
ENST00000504690.5:c.1913T>C	ENSP00000425627.1:p.Leu638Pro
ENST00000510779.1:c.963T>C
ENST00000511307.5:c.*1693T>C	ENSP00000421420.1:n.*1693T>C
ENST00000512049.5:c.1892T>C	ENSP00000421860.1:p.Leu631Pro
ENST00000513604.5:c.*1301T>C	ENSP00000423111.1:n.*1301T>C
ENST00000515425.5:c.1913T>C	ENSP00000423660.1:p.Leu638Pro
NM_024577.3:c.1913T>C , LRG_269t1:c.1913T>C	NP_078853.2:p.Leu638Pro
NM_024577.4:c.1913T>C MANE Select	NP_078853.2:p.Leu638Pro