Canonical Allele Identifier: CA805451641

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1454500151
• gnomAD v3: 5-149008776-G-A
• gnomAD v4: 5-149008776-G-A
• MyVariant Identifiers: chr5:g.148388339G>A (hg19) ; chr5:g.149008776G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008776G>A , CM000667.2:g.149008776G>A	GRCh38
NC_000005.9:g.148388339G>A , CM000667.1:g.148388339G>A	GRCh37
NC_000005.8:g.148368532G>A	NCBI36
NG_007947.2:g.59399C>T , LRG_269:g.59399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+75C>T
ENST00000515425.6:c.3478+75C>T MANE Select	ENSP00000423660.1:n.3478+75C>T
ENST00000675793.1:c.*2837C>T	ENSP00000502039.1:n.*2837C>T
ENST00000323829.9:c.*2866+75C>T	ENSP00000313025.5:n.*2866+75C>T
ENST00000504517.5:c.3008+75C>T	ENSP00000421779.1:n.3008+75C>T
ENST00000504690.5:c.3478+75C>T	ENSP00000425627.1:n.3478+75C>T
ENST00000510779.1:c.2528+75C>T
ENST00000512049.5:c.3457+75C>T	ENSP00000421860.1:n.3457+75C>T
ENST00000515229.5:n.140+75C>T
ENST00000515425.5:c.3478+75C>T	ENSP00000423660.1:n.3478+75C>T
NM_024577.3:c.3478+75C>T , LRG_269t1:c.3478+75C>T	NP_078853.2:n.3478+75C>T
NM_024577.4:c.3478+75C>T MANE Select	NP_078853.2:n.3478+75C>T