Canonical Allele Identifier: CA9067840

Gene: LMNB2

Linked Data

• ClinVar Variation Id: 542437
• ClinVar RCV Id: RCV000652860 ; RCV000712223 ; RCV004025888
• dbSNP Id: rs112419003
• ExAC: 19:2438271 C / A
• gnomAD v2: 19-2438271-C-A
• gnomAD v3: 19-2438273-C-A
• gnomAD v4: 19-2438273-C-A
• MyVariant Identifiers: chr19:g.2438271C>A (hg19) ; chr19:g.2438273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2438273C>A , CM000681.2:g.2438273C>A	GRCh38
NC_000019.9:g.2438271C>A , CM000681.1:g.2438271C>A	GRCh37
NC_000019.8:g.2389271C>A	NCBI36
NG_008355.1:g.23688G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325327.4:c.574G>T MANE Select	ENSP00000327054.3:p.Ala192Ser
ENST00000325327.3:c.574G>T	ENSP00000327054.3:p.Ala192Ser
NM_032737.3:c.574G>T	NP_116126.3:p.Ala192Ser
XM_011528378.1:c.574G>T	XP_011526680.1:p.Ala192Ser
NM_032737.4:c.574G>T MANE Select	NP_116126.3:p.Ala192Ser