Canonical Allele Identifier: CA10620555

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351589
• ClinVar RCV Id: RCV000299282 ; RCV000356486
• dbSNP Id: rs571268825
• gnomAD v2: 5-148363912-A-G
• gnomAD v3: 5-148984349-A-G
• gnomAD v4: 5-148984349-A-G
• MyVariant Identifiers: chr5:g.148363912A>G (hg19) ; chr5:g.148984349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148984349A>G , CM000667.2:g.148984349A>G	GRCh38
NC_000005.9:g.148363912A>G , CM000667.1:g.148363912A>G	GRCh37
NC_000005.8:g.148344105A>G	NCBI36
NG_007947.2:g.83826T>C , LRG_269:g.83826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*20362T>C MANE Select	ENSP00000423660.1:n.*20362T>C
ENST00000504690.5:c.*12+19377T>C	ENSP00000425627.1:n.*12+19377T>C
ENST00000510350.1:n.231+22532T>C
NM_024577.3:c.*20362T>C , LRG_269t1:c.*20362T>C	NP_078853.2:n.*20362T>C
NM_024577.4:c.*20362T>C MANE Select	NP_078853.2:n.*20362T>C