Canonical Allele Identifier: CA805483770
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1479068169
MyVariant Identifiers: chr5:g.148374246A>G (hg19) chr5:g.148994683A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994683A>G , CM000667.2:g.148994683A>G GRCh38
NC_000005.9:g.148374246A>G , CM000667.1:g.148374246A>G GRCh37
NC_000005.8:g.148354439A>G NCBI36
NG_007947.2:g.73492T>C , LRG_269:g.73492T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10028T>C MANE Select ENSP00000423660.1:n.*10028T>C
ENST00000504690.5:c.*12+9043T>C ENSP00000425627.1:n.*12+9043T>C
ENST00000510350.1:n.231+12198T>C
NM_024577.3:c.*10028T>C , LRG_269t1:c.*10028T>C NP_078853.2:n.*10028T>C
NM_024577.4:c.*10028T>C MANE Select NP_078853.2:n.*10028T>C
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