Canonical Allele Identifier: CA10857531
Gene: SMYD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.214283666T>C , CM000663.2:g.214283666T>C GRCh38
NC_000001.10:g.214457009T>C , CM000663.1:g.214457009T>C GRCh37
NC_000001.9:g.212523632T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366957.10:c.173+2239T>C MANE Select ENSP00000355924.5:n.173+2239T>C
ENST00000366957.9:c.173+2239T>C ENSP00000355924.5:n.173+2239T>C
ENST00000460580.5:n.206+2239T>C
ENST00000471645.5:n.303+2239T>C
ENST00000491455.5:n.326+2239T>C
NM_020197.2:c.173+2239T>C NP_064582.2:n.173+2239T>C
XR_426790.2:n.176+2239T>C
XR_426790.4:n.176+2239T>C
NM_020197.3:c.173+2239T>C MANE Select NP_064582.2:n.173+2239T>C
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