Canonical Allele Identifier: CA391271324
Gene: JAG2 HGNC NCBI

Linked Data

dbSNP Id: rs909935223
MyVariant Identifiers: chr14:g.105616983G>C (hg19) chr14:g.105150646G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105150646G>C , CM000676.2:g.105150646G>C GRCh38
NC_000014.8:g.105616983G>C , CM000676.1:g.105616983G>C GRCh37
NC_000014.7:g.104688028G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331782.8:c.1560C>G MANE Select ENSP00000328169.3:p.Phe520Leu
ENST00000331782.7:c.1560C>G ENSP00000328169.3:p.Phe520Leu
ENST00000347004.2:c.1446C>G ENSP00000328566.2:p.Phe482Leu
NM_002226.4:c.1560C>G NP_002217.3:p.Phe520Leu
NM_145159.2:c.1446C>G NP_660142.1:p.Phe482Leu
XM_011536736.1:c.1560C>G XP_011535038.1:p.Phe520Leu
XR_001750303.2:n.1621C>G
NM_002226.5:c.1560C>G MANE Select NP_002217.3:p.Phe520Leu
NM_145159.3:c.1446C>G NP_660142.1:p.Phe482Leu
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