Canonical Allele Identifier: CA1282247
Gene: LAMC2 HGNC NCBI

Linked Data

dbSNP Id: rs765639954
ExAC: 1:183177081 A / C
gnomAD v2: 1-183177081-A-C
gnomAD v4: 1-183207946-A-C
MyVariant Identifiers: chr1:g.183177081A>C (hg19) chr1:g.183207946A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183207946A>C , CM000663.2:g.183207946A>C GRCh38
NC_000001.10:g.183177081A>C , CM000663.1:g.183177081A>C GRCh37
NC_000001.9:g.181443704A>C NCBI36
NG_007079.2:g.26683A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.145A>C MANE Select ENSP00000264144.4:p.Asn49His
ENST00000264144.4:c.145A>C ENSP00000264144.4:p.Asn49His
ENST00000493293.5:c.145A>C ENSP00000432063.1:p.Asn49His
NM_005562.2:c.145A>C NP_005553.2:p.Asn49His
NM_018891.2:c.145A>C NP_061486.2:p.Asn49His
XM_017001273.2:c.145A>C XP_016856762.1:p.Asn49His
NM_005562.3:c.145A>C MANE Select NP_005553.2:p.Asn49His
NM_018891.3:c.145A>C NP_061486.2:p.Asn49His
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