Canonical Allele Identifier: CA9611500

Gene: LIM2

Linked Data

• ClinVar Variation Id: 329971
• ClinVar RCV Id: RCV000302894 ; RCV000871464
• dbSNP Id: rs73934370
• ExAC: 19:51883882 C / T
• gnomAD v2: 19-51883882-C-T
• gnomAD v3: 19-51380628-C-T
• gnomAD v4: 19-51380628-C-T
• MyVariant Identifiers: chr19:g.51883882C>T (hg19) ; chr19:g.51380628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51380628C>T , CM000681.2:g.51380628C>T	GRCh38
NC_000019.9:g.51883882C>T , CM000681.1:g.51883882C>T	GRCh37
NC_000019.8:g.56575694C>T	NCBI36
NG_012924.1:g.12329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000596399.2:c.337G>A MANE Select	ENSP00000472090.2:p.Val113Met
ENST00000221973.7:c.463G>A	ENSP00000221973.2:p.Val155Met
ENST00000596399.1:c.337G>A	ENSP00000472090.1:p.Val113Met
NM_001161748.1:c.337G>A	NP_001155220.1:p.Val113Met
NM_030657.3:c.463G>A	NP_085915.2:p.Val155Met
NM_001161748.2:c.337G>A MANE Select	NP_001155220.1:p.Val113Met
NM_030657.4:c.463G>A	NP_085915.2:p.Val155Met