Canonical Allele Identifier: CA361665158

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149026628-C-T
• MyVariant Identifiers: chr5:g.148406191C>T (hg19) ; chr5:g.149026628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026628C>T , CM000667.2:g.149026628C>T	GRCh38
NC_000005.9:g.148406191C>T , CM000667.1:g.148406191C>T	GRCh37
NC_000005.8:g.148386384C>T	NCBI36
NG_007947.2:g.41547G>A , LRG_269:g.41547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2893G>A
ENST00000515425.6:c.2997G>A MANE Select	ENSP00000423660.1:p.Met999Ile
ENST00000675793.1:c.*2281G>A	ENSP00000502039.1:n.*2281G>A
ENST00000676056.1:c.*2507G>A	ENSP00000501827.1:n.*2507G>A
ENST00000323829.9:c.*2385G>A	ENSP00000313025.5:n.*2385G>A
ENST00000504517.5:c.2527G>A	ENSP00000421779.1:n.2527G>A
ENST00000504690.5:c.2997G>A	ENSP00000425627.1:p.Met999Ile
ENST00000510779.1:c.2047G>A
ENST00000511307.5:c.*2884G>A	ENSP00000421420.1:n.*2884G>A
ENST00000512049.5:c.2976G>A	ENSP00000421860.1:p.Met992Ile
ENST00000513604.5:c.*2492G>A	ENSP00000423111.1:n.*2492G>A
ENST00000515425.5:c.2997G>A	ENSP00000423660.1:p.Met999Ile
NM_024577.3:c.2997G>A , LRG_269t1:c.2997G>A	NP_078853.2:p.Met999Ile
NM_024577.4:c.2997G>A MANE Select	NP_078853.2:p.Met999Ile