Canonical Allele Identifier: CA343660207
Gene: LAMC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.183209185G>C (hg19) chr1:g.183240050G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183240050G>C , CM000663.2:g.183240050G>C GRCh38
NC_000001.10:g.183209185G>C , CM000663.1:g.183209185G>C GRCh37
NC_000001.9:g.181475808G>C NCBI36
NG_007079.2:g.58787G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3080G>C MANE Select ENSP00000264144.4:p.Ser1027Thr
ENST00000264144.4:c.3080G>C ENSP00000264144.4:p.Ser1027Thr
ENST00000461729.1:n.550G>C
ENST00000493293.5:c.3080G>C ENSP00000432063.1:p.Ser1027Thr
NM_005562.2:c.3080G>C NP_005553.2:p.Ser1027Thr
NM_018891.2:c.3080G>C NP_061486.2:p.Ser1027Thr
NM_005562.3:c.3080G>C MANE Select NP_005553.2:p.Ser1027Thr
NM_018891.3:c.3080G>C NP_061486.2:p.Ser1027Thr
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