Canonical Allele Identifier: CA361664747

Gene: SH3TC2

Linked Data

• dbSNP Id: rs754261079
• gnomAD v2: 5-148388557-G-A
• gnomAD v3: 5-149008994-G-A
• gnomAD v4: 5-149008994-G-A
• MyVariant Identifiers: chr5:g.148388557G>A (hg19) ; chr5:g.149008994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008994G>A , CM000667.2:g.149008994G>A	GRCh38
NC_000005.9:g.148388557G>A , CM000667.1:g.148388557G>A	GRCh37
NC_000005.8:g.148368750G>A	NCBI36
NG_007947.2:g.59181C>T , LRG_269:g.59181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3231C>T
ENST00000515425.6:c.3335C>T MANE Select	ENSP00000423660.1:p.Ala1112Val
ENST00000675793.1:c.*2619C>T	ENSP00000502039.1:n.*2619C>T
ENST00000323829.9:c.*2723C>T	ENSP00000313025.5:n.*2723C>T
ENST00000504517.5:c.2865C>T	ENSP00000421779.1:n.2865C>T
ENST00000504690.5:c.3335C>T	ENSP00000425627.1:p.Ala1112Val
ENST00000510779.1:c.2385C>T
ENST00000512049.5:c.3314C>T	ENSP00000421860.1:p.Ala1105Val
ENST00000515425.5:c.3335C>T	ENSP00000423660.1:p.Ala1112Val
NM_024577.3:c.3335C>T , LRG_269t1:c.3335C>T	NP_078853.2:p.Ala1112Val
NM_024577.4:c.3335C>T MANE Select	NP_078853.2:p.Ala1112Val