Canonical Allele Identifier: CA343660213

Gene: LAMC2

Linked Data

• MyVariant Identifiers: chr1:g.183209186T>G (hg19) ; chr1:g.183240051T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.3081T>G MANE Select	ENSP00000264144.4:p.Ser1027Arg
ENST00000264144.4:c.3081T>G	ENSP00000264144.4:p.Ser1027Arg
ENST00000461729.1:n.551T>G
ENST00000493293.5:c.3081T>G	ENSP00000432063.1:p.Ser1027Arg
NM_005562.2:c.3081T>G	NP_005553.2:p.Ser1027Arg
NM_018891.2:c.3081T>G	NP_061486.2:p.Ser1027Arg
NM_005562.3:c.3081T>G MANE Select	NP_005553.2:p.Ser1027Arg
NM_018891.3:c.3081T>G	NP_061486.2:p.Ser1027Arg