Canonical Allele Identifier: CA10608882

Gene: LAMC2

Linked Data

• ClinVar Variation Id: 293979
• ClinVar RCV Id: RCV000329719 ; RCV001537692 ; RCV001537693 ; RCV001651335
• dbSNP Id: rs2276542
• gnomAD v2: 1-183155399-A-G
• gnomAD v3: 1-183186264-A-G
• gnomAD v4: 1-183186264-A-G
• MyVariant Identifiers: chr1:g.183155399A>G (hg19) ; chr1:g.183186264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183186264A>G , CM000663.2:g.183186264A>G	GRCh38
NC_000001.10:g.183155399A>G , CM000663.1:g.183155399A>G	GRCh37
NC_000001.9:g.181422022A>G	NCBI36
NG_007079.2:g.5001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.-89A>G MANE Select	ENSP00000264144.4:n.-89A>G
ENST00000493293.5:c.-89A>G	ENSP00000432063.1:n.-89A>G
NM_005562.2:c.-89A>G	NP_005553.2:n.-89A>G
NM_018891.2:c.-89A>G	NP_061486.2:n.-89A>G
XM_017001273.2:c.-89A>G	XP_016856762.1:n.-89A>G
NM_005562.3:c.-89A>G MANE Select	NP_005553.2:n.-89A>G
NM_018891.3:c.-89A>G	NP_061486.2:n.-89A>G