Canonical Allele Identifier: CA33948774
Gene: LAMC2 HGNC NCBI

Linked Data

dbSNP Id: rs138051637
gnomAD v2: 1-183212217-C-T
gnomAD v3: 1-183243082-C-T
gnomAD v4: 1-183243082-C-T
MyVariant Identifiers: chr1:g.183212217C>T (hg19) chr1:g.183243082C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243082C>T , CM000663.2:g.183243082C>T GRCh38
NC_000001.10:g.183212217C>T , CM000663.1:g.183212217C>T GRCh37
NC_000001.9:g.181478840C>T NCBI36
NG_007079.2:g.61819C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3329-65C>T MANE Select ENSP00000264144.4:n.3329-65C>T
ENST00000264144.4:c.3329-65C>T ENSP00000264144.4:n.3329-65C>T
NM_005562.2:c.3329-65C>T NP_005553.2:n.3329-65C>T
NM_005562.3:c.3329-65C>T MANE Select NP_005553.2:n.3329-65C>T
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Search 100 bp 3'