Canonical Allele Identifier: CA1283153
Gene: LAMC2 HGNC NCBI

Linked Data

dbSNP Id: rs775906491
ExAC: 1:183209186 T / C
gnomAD v2: 1-183209186-T-C
gnomAD v3: 1-183240051-T-C
gnomAD v4: 1-183240051-T-C
MyVariant Identifiers: chr1:g.183209186T>C (hg19) chr1:g.183240051T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183240051T>C , CM000663.2:g.183240051T>C GRCh38
NC_000001.10:g.183209186T>C , CM000663.1:g.183209186T>C GRCh37
NC_000001.9:g.181475809T>C NCBI36
NG_007079.2:g.58788T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.3081T>C MANE Select ENSP00000264144.4:p.Ser1027=
ENST00000264144.4:c.3081T>C ENSP00000264144.4:p.Ser1027=
ENST00000461729.1:n.551T>C
ENST00000493293.5:c.3081T>C ENSP00000432063.1:p.Ser1027=
NM_005562.2:c.3081T>C NP_005553.2:p.Ser1027=
NM_018891.2:c.3081T>C NP_061486.2:p.Ser1027=
NM_005562.3:c.3081T>C MANE Select NP_005553.2:p.Ser1027=
NM_018891.3:c.3081T>C NP_061486.2:p.Ser1027=
Search 100 bp 5'
Search 100 bp 3'