Canonical Allele Identifier: CA422112517
Gene: LAMC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.183209180T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183240045T>C , CM000663.2:g.183240045T>C GRCh38
NC_000001.10:g.183209180T>C , CM000663.1:g.183209180T>C GRCh37
NC_000001.9:g.181475803T>C NCBI36
NG_007079.2:g.58782T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3075T>C MANE Select ENSP00000264144.4:p.Ile1025=
ENST00000264144.4:c.3075T>C ENSP00000264144.4:p.Ile1025=
ENST00000461729.1:n.545T>C
ENST00000493293.5:c.3075T>C ENSP00000432063.1:p.Ile1025=
NM_005562.2:c.3075T>C NP_005553.2:p.Ile1025=
NM_018891.2:c.3075T>C NP_061486.2:p.Ile1025=
NM_005562.3:c.3075T>C MANE Select NP_005553.2:p.Ile1025=
NM_018891.3:c.3075T>C NP_061486.2:p.Ile1025=