Canonical Allele Identifier: CA1282764
Gene: LAMC2 HGNC NCBI

Linked Data

dbSNP Id: rs149124612
ExAC: 1:183201336 G / C
gnomAD v2: 1-183201336-G-C
gnomAD v3: 1-183232201-G-C
gnomAD v4: 1-183232201-G-C
MyVariant Identifiers: chr1:g.183201336G>C (hg19) chr1:g.183232201G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183232201G>C , CM000663.2:g.183232201G>C GRCh38
NC_000001.10:g.183201336G>C , CM000663.1:g.183201336G>C GRCh37
NC_000001.9:g.181467959G>C NCBI36
NG_007079.2:g.50938G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.1872G>C MANE Select ENSP00000264144.4:p.Met624Ile
ENST00000264144.4:c.1872G>C ENSP00000264144.4:p.Met624Ile
ENST00000493293.5:c.1872G>C ENSP00000432063.1:p.Met624Ile
NM_005562.2:c.1872G>C NP_005553.2:p.Met624Ile
NM_018891.2:c.1872G>C NP_061486.2:p.Met624Ile
XM_017001273.2:c.1872G>C XP_016856762.1:p.Met624Ile
NM_005562.3:c.1872G>C MANE Select NP_005553.2:p.Met624Ile
NM_018891.3:c.1872G>C NP_061486.2:p.Met624Ile
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