Canonical Allele Identifier: CA9067535

Gene: LMNB2

Linked Data

• ClinVar Variation Id: 542438
• ClinVar RCV Id: RCV000652861 ; RCV004025889
• dbSNP Id: rs780728738
• ExAC: 19:2433994 G / A
• gnomAD v2: 19-2433994-G-A
• gnomAD v3: 19-2433996-G-A
• gnomAD v4: 19-2433996-G-A
• MyVariant Identifiers: chr19:g.2433994G>A (hg19) ; chr19:g.2433996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2433996G>A , CM000681.2:g.2433996G>A	GRCh38
NC_000019.9:g.2433994G>A , CM000681.1:g.2433994G>A	GRCh37
NC_000019.8:g.2384994G>A	NCBI36
NG_008355.1:g.27965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325327.4:c.1312C>T MANE Select	ENSP00000327054.3:p.Arg438Trp
ENST00000325327.3:c.1312C>T	ENSP00000327054.3:p.Arg438Trp
ENST00000490554.5:n.503C>T
NM_032737.3:c.1312C>T	NP_116126.3:p.Arg438Trp
XM_011528378.1:c.1312C>T	XP_011526680.1:p.Arg438Trp
XM_011528379.1:c.964C>T	XP_011526681.1:p.Arg322Trp
NM_032737.4:c.1312C>T MANE Select	NP_116126.3:p.Arg438Trp