Canonical Allele Identifier: CA361665118

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406171G>T (hg19) ; chr5:g.149026608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026608G>T , CM000667.2:g.149026608G>T	GRCh38
NC_000005.9:g.148406171G>T , CM000667.1:g.148406171G>T	GRCh37
NC_000005.8:g.148386364G>T	NCBI36
NG_007947.2:g.41567C>A , LRG_269:g.41567C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2913C>A
ENST00000515425.6:c.3017C>A MANE Select	ENSP00000423660.1:p.Ser1006Tyr
ENST00000675793.1:c.*2301C>A	ENSP00000502039.1:n.*2301C>A
ENST00000676056.1:c.*2527C>A	ENSP00000501827.1:n.*2527C>A
ENST00000323829.9:c.*2405C>A	ENSP00000313025.5:n.*2405C>A
ENST00000504517.5:c.2547C>A	ENSP00000421779.1:n.2547C>A
ENST00000504690.5:c.3017C>A	ENSP00000425627.1:p.Ser1006Tyr
ENST00000510779.1:c.2067C>A
ENST00000511307.5:c.*2904C>A	ENSP00000421420.1:n.*2904C>A
ENST00000512049.5:c.2996C>A	ENSP00000421860.1:p.Ser999Tyr
ENST00000513604.5:c.*2512C>A	ENSP00000423111.1:n.*2512C>A
ENST00000515425.5:c.3017C>A	ENSP00000423660.1:p.Ser1006Tyr
NM_024577.3:c.3017C>A , LRG_269t1:c.3017C>A	NP_078853.2:p.Ser1006Tyr
NM_024577.4:c.3017C>A MANE Select	NP_078853.2:p.Ser1006Tyr