Canonical Allele Identifier: CA361667696

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407493C>A (hg19) ; chr5:g.149027930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027930C>A , CM000667.2:g.149027930C>A	GRCh38
NC_000005.9:g.148407493C>A , CM000667.1:g.148407493C>A	GRCh37
NC_000005.8:g.148387686C>A	NCBI36
NG_007947.2:g.40245G>T , LRG_269:g.40245G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1698G>T
ENST00000515425.6:c.1802G>T MANE Select	ENSP00000423660.1:p.Cys601Phe
ENST00000675793.1:c.*1086G>T	ENSP00000502039.1:n.*1086G>T
ENST00000676056.1:c.*1312G>T	ENSP00000501827.1:n.*1312G>T
ENST00000323829.9:c.*1190G>T	ENSP00000313025.5:n.*1190G>T
ENST00000504517.5:c.1332G>T	ENSP00000421779.1:n.1332G>T
ENST00000504690.5:c.1802G>T	ENSP00000425627.1:p.Cys601Phe
ENST00000510779.1:c.852G>T
ENST00000511307.5:c.*1582G>T	ENSP00000421420.1:n.*1582G>T
ENST00000512049.5:c.1781G>T	ENSP00000421860.1:p.Cys594Phe
ENST00000513604.5:c.*1190G>T	ENSP00000423111.1:n.*1190G>T
ENST00000515425.5:c.1802G>T	ENSP00000423660.1:p.Cys601Phe
NM_024577.3:c.1802G>T , LRG_269t1:c.1802G>T	NP_078853.2:p.Cys601Phe
NM_024577.4:c.1802G>T MANE Select	NP_078853.2:p.Cys601Phe