Canonical Allele Identifier: CA361665053

Gene: SH3TC2

Linked Data

• dbSNP Id: rs186029710
• gnomAD v2: 5-148406139-C-A
• gnomAD v4: 5-149026576-C-A
• MyVariant Identifiers: chr5:g.148406139C>A (hg19) ; chr5:g.149026576C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026576C>A , CM000667.2:g.149026576C>A	GRCh38
NC_000005.9:g.148406139C>A , CM000667.1:g.148406139C>A	GRCh37
NC_000005.8:g.148386332C>A	NCBI36
NG_007947.2:g.41599G>T , LRG_269:g.41599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2945G>T
ENST00000515425.6:c.3049G>T MANE Select	ENSP00000423660.1:p.Ala1017Ser
ENST00000675793.1:c.*2333G>T	ENSP00000502039.1:n.*2333G>T
ENST00000676056.1:c.*2559G>T	ENSP00000501827.1:n.*2559G>T
ENST00000323829.9:c.*2437G>T	ENSP00000313025.5:n.*2437G>T
ENST00000504517.5:c.2579G>T	ENSP00000421779.1:n.2579G>T
ENST00000504690.5:c.3049G>T	ENSP00000425627.1:p.Ala1017Ser
ENST00000510779.1:c.2099G>T
ENST00000511307.5:c.*2936G>T	ENSP00000421420.1:n.*2936G>T
ENST00000512049.5:c.3028G>T	ENSP00000421860.1:p.Ala1010Ser
ENST00000513604.5:c.*2544G>T	ENSP00000423111.1:n.*2544G>T
ENST00000515425.5:c.3049G>T	ENSP00000423660.1:p.Ala1017Ser
NM_024577.3:c.3049G>T , LRG_269t1:c.3049G>T	NP_078853.2:p.Ala1017Ser
NM_024577.4:c.3049G>T MANE Select	NP_078853.2:p.Ala1017Ser