Canonical Allele Identifier: CA7385231
Gene: JAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 770429
ClinVar RCV Id: RCV000949582
dbSNP Id: rs34728766
ExAC: 14:105609400 G / A
gnomAD v2: 14-105609400-G-A
gnomAD v3: 14-105143063-G-A
gnomAD v4: 14-105143063-G-A
MyVariant Identifiers: chr14:g.105609400G>A (hg19) chr14:g.105143063G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105143063G>A , CM000676.2:g.105143063G>A GRCh38
NC_000014.8:g.105609400G>A , CM000676.1:g.105609400G>A GRCh37
NC_000014.7:g.104680445G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000331782.8:c.3349C>T MANE Select ENSP00000328169.3:p.Arg1117Trp
ENST00000331782.7:c.3349C>T ENSP00000328169.3:p.Arg1117Trp
ENST00000347004.2:c.3235C>T ENSP00000328566.2:p.Arg1079Trp
ENST00000546616.1:n.967C>T
NM_002226.4:c.3349C>T NP_002217.3:p.Arg1117Trp
NM_145159.2:c.3235C>T NP_660142.1:p.Arg1079Trp
XR_001750303.2:n.3376C>T
NM_002226.5:c.3349C>T MANE Select NP_002217.3:p.Arg1117Trp
NM_145159.3:c.3235C>T NP_660142.1:p.Arg1079Trp
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