Canonical Allele Identifier: CA361664744

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149008992-C-A
• MyVariant Identifiers: chr5:g.148388555C>A (hg19) ; chr5:g.149008992C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008992C>A , CM000667.2:g.149008992C>A	GRCh38
NC_000005.9:g.148388555C>A , CM000667.1:g.148388555C>A	GRCh37
NC_000005.8:g.148368748C>A	NCBI36
NG_007947.2:g.59183G>T , LRG_269:g.59183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3233G>T
ENST00000515425.6:c.3337G>T MANE Select	ENSP00000423660.1:p.Val1113Phe
ENST00000675793.1:c.*2621G>T	ENSP00000502039.1:n.*2621G>T
ENST00000323829.9:c.*2725G>T	ENSP00000313025.5:n.*2725G>T
ENST00000504517.5:c.2867G>T	ENSP00000421779.1:n.2867G>T
ENST00000504690.5:c.3337G>T	ENSP00000425627.1:p.Val1113Phe
ENST00000510779.1:c.2387G>T
ENST00000512049.5:c.3316G>T	ENSP00000421860.1:p.Val1106Phe
ENST00000515425.5:c.3337G>T	ENSP00000423660.1:p.Val1113Phe
NM_024577.3:c.3337G>T , LRG_269t1:c.3337G>T	NP_078853.2:p.Val1113Phe
NM_024577.4:c.3337G>T MANE Select	NP_078853.2:p.Val1113Phe