Canonical Allele Identifier: CA128988980
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs553892817
gnomAD v2: 5-148374055-A-G
gnomAD v3: 5-148994492-A-G
gnomAD v4: 5-148994492-A-G
MyVariant Identifiers: chr5:g.148374055A>G (hg19) chr5:g.148994492A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994492A>G , CM000667.2:g.148994492A>G GRCh38
NC_000005.9:g.148374055A>G , CM000667.1:g.148374055A>G GRCh37
NC_000005.8:g.148354248A>G NCBI36
NG_007947.2:g.73683T>C , LRG_269:g.73683T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*10219T>C MANE Select ENSP00000423660.1:n.*10219T>C
ENST00000504690.5:c.*12+9234T>C ENSP00000425627.1:n.*12+9234T>C
ENST00000510350.1:n.231+12389T>C
NM_024577.3:c.*10219T>C , LRG_269t1:c.*10219T>C NP_078853.2:n.*10219T>C
NM_024577.4:c.*10219T>C MANE Select NP_078853.2:n.*10219T>C
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