Canonical Allele Identifier: CA361664009

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148386507C>A (hg19) ; chr5:g.149006944C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006944C>A , CM000667.2:g.149006944C>A	GRCh38
NC_000005.9:g.148386507C>A , CM000667.1:g.148386507C>A	GRCh37
NC_000005.8:g.148366700C>A	NCBI36
NG_007947.2:g.61231G>T , LRG_269:g.61231G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4465G>T
ENST00000515425.6:c.3612G>T MANE Select	ENSP00000423660.1:p.Lys1204Asn
ENST00000675793.1:c.*4669G>T	ENSP00000502039.1:n.*4669G>T
ENST00000323829.9:c.*3000G>T	ENSP00000313025.5:n.*3000G>T
ENST00000502274.1:c.198G>T	ENSP00000421092.1:p.Lys66Asn
ENST00000504517.5:c.3134G>T	ENSP00000421779.1:n.3134G>T
ENST00000504690.5:c.3612G>T	ENSP00000425627.1:p.Lys1204Asn
ENST00000510350.1:n.168G>T
ENST00000510779.1:c.2662G>T
ENST00000512049.5:c.3591G>T	ENSP00000421860.1:p.Lys1197Asn
ENST00000515229.5:n.274G>T
ENST00000515425.5:c.3612G>T	ENSP00000423660.1:p.Lys1204Asn
NM_024577.3:c.3612G>T , LRG_269t1:c.3612G>T	NP_078853.2:p.Lys1204Asn
NM_024577.4:c.3612G>T MANE Select	NP_078853.2:p.Lys1204Asn