Canonical Allele Identifier: CA391271582

Gene: JAG2

Linked Data

• gnomAD v4: 14-105150767-T-C
• MyVariant Identifiers: chr14:g.105617104T>C (hg19) ; chr14:g.105150767T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105150767T>C , CM000676.2:g.105150767T>C	GRCh38
NC_000014.8:g.105617104T>C , CM000676.1:g.105617104T>C	GRCh37
NC_000014.7:g.104688149T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331782.8:c.1439A>G MANE Select	ENSP00000328169.3:p.Asn480Ser
ENST00000331782.7:c.1439A>G	ENSP00000328169.3:p.Asn480Ser
ENST00000347004.2:c.1325A>G	ENSP00000328566.2:p.Asn442Ser
NM_002226.4:c.1439A>G	NP_002217.3:p.Asn480Ser
NM_145159.2:c.1325A>G	NP_660142.1:p.Asn442Ser
XM_011536736.1:c.1439A>G	XP_011535038.1:p.Asn480Ser
XR_001750303.2:n.1500A>G
NM_002226.5:c.1439A>G MANE Select	NP_002217.3:p.Asn480Ser
NM_145159.3:c.1325A>G	NP_660142.1:p.Asn442Ser