Canonical Allele Identifier: CA9611601

Gene: LIM2 LIM2-AS1

Linked Data

• ClinVar Variation Id: 329975
• ClinVar RCV Id: RCV000354076 ; RCV002523074
• dbSNP Id: rs199913969
• ExAC: 19:51890495 C / T
• gnomAD v2: 19-51890495-C-T
• gnomAD v3: 19-51387241-C-T
• gnomAD v4: 19-51387241-C-T
• COSMIC: COSM3423039
• MyVariant Identifiers: chr19:g.51890495C>T (hg19) ; chr19:g.51387241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51387241C>T , CM000681.2:g.51387241C>T	GRCh38
NC_000019.9:g.51890495C>T , CM000681.1:g.51890495C>T	GRCh37
NC_000019.8:g.56582307C>T	NCBI36
NG_012924.1:g.5716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000596399.2:c.175+28G>A (LIM2) MANE Select	ENSP00000472090.2:n.175+28G>A
ENST00000221973.7:c.203G>A (LIM2)	ENSP00000221973.2:p.Arg68His
ENST00000596399.1:c.175+28G>A (LIM2)	ENSP00000472090.1:n.175+28G>A
NM_001161748.1:c.175+28G>A (LIM2)	NP_001155220.1:n.175+28G>A
NM_030657.3:c.203G>A (LIM2)	NP_085915.2:p.Arg68His
XR_002958395.1:n.365+44C>T (LIM2-AS1)
XR_002958396.1:n.365+44C>T (LIM2-AS1)
XR_002958397.1:n.365+44C>T (LIM2-AS1)
XR_002958398.1:n.365+44C>T (LIM2-AS1)
NM_001161748.2:c.175+28G>A (LIM2) MANE Select	NP_001155220.1:n.175+28G>A
NM_030657.4:c.203G>A (LIM2)	NP_085915.2:p.Arg68His