Canonical Allele Identifier: CA9067952

Gene: LMNB2

Linked Data

• ClinVar Variation Id: 445837
• ClinVar RCV Id: RCV000513924 ; RCV002060212 ; RCV001336788
• dbSNP Id: rs199577453
• ExAC: 19:2444557 G / A
• gnomAD v2: 19-2444557-G-A
• gnomAD v3: 19-2444559-G-A
• gnomAD v4: 19-2444559-G-A
• MyVariant Identifiers: chr19:g.2444557G>A (hg19) ; chr19:g.2444559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2444559G>A , CM000681.2:g.2444559G>A	GRCh38
NC_000019.9:g.2444557G>A , CM000681.1:g.2444557G>A	GRCh37
NC_000019.8:g.2395557G>A	NCBI36
NG_008355.1:g.17402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325327.4:c.265-19C>T MANE Select	ENSP00000327054.3:n.265-19C>T
ENST00000325327.3:c.265-19C>T	ENSP00000327054.3:n.265-19C>T
NM_032737.3:c.265-19C>T	NP_116126.3:n.265-19C>T
XM_011528378.1:c.265-19C>T	XP_011526680.1:n.265-19C>T
NM_032737.4:c.265-19C>T MANE Select	NP_116126.3:n.265-19C>T