Canonical Allele Identifier: CA361672746

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148417952G>T (hg19) ; chr5:g.149038389G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149038389G>T , CM000667.2:g.149038389G>T	GRCh38
NC_000005.9:g.148417952G>T , CM000667.1:g.148417952G>T	GRCh37
NC_000005.8:g.148398145G>T	NCBI36
NG_007947.2:g.29786C>A , LRG_269:g.29786C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.797C>A
ENST00000515425.6:c.907C>A MANE Select	ENSP00000423660.1:p.Pro303Thr
ENST00000674655.1:c.169C>A	ENSP00000502840.1:p.Pro57Thr
ENST00000674983.1:c.*165C>A	ENSP00000502387.1:n.*165C>A
ENST00000675793.1:c.907C>A	ENSP00000502039.1:p.Pro303Thr
ENST00000676056.1:c.*165C>A	ENSP00000501827.1:n.*165C>A
ENST00000323829.9:c.*165C>A	ENSP00000313025.5:n.*165C>A
ENST00000503071.1:n.374C>A
ENST00000504517.5:c.307C>A	ENSP00000421779.1:p.Pro103Thr
ENST00000504690.5:c.907C>A	ENSP00000425627.1:p.Pro303Thr
ENST00000511307.5:c.*687C>A	ENSP00000421420.1:n.*687C>A
ENST00000512049.5:c.886C>A	ENSP00000421860.1:p.Pro296Thr
ENST00000513604.5:c.*165C>A	ENSP00000423111.1:n.*165C>A
ENST00000515425.5:c.907C>A	ENSP00000423660.1:p.Pro303Thr
NM_024577.3:c.907C>A , LRG_269t1:c.907C>A	NP_078853.2:p.Pro303Thr
NM_024577.4:c.907C>A MANE Select	NP_078853.2:p.Pro303Thr