Canonical Allele Identifier: CA422114097

Gene: LAMC2

Linked Data

• ClinVar Variation Id: 1673292
• ClinVar RCV Id: RCV002213730
• dbSNP Id: rs2102196531
• MyVariant Identifiers: chr1:g.183177107T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183207972T>C , CM000663.2:g.183207972T>C	GRCh38
NC_000001.10:g.183177107T>C , CM000663.1:g.183177107T>C	GRCh37
NC_000001.9:g.181443730T>C	NCBI36
NG_007079.2:g.26709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.171T>C MANE Select	ENSP00000264144.4:p.Asn57=
ENST00000264144.4:c.171T>C	ENSP00000264144.4:p.Asn57=
ENST00000493293.5:c.171T>C	ENSP00000432063.1:p.Asn57=
NM_005562.2:c.171T>C	NP_005553.2:p.Asn57=
NM_018891.2:c.171T>C	NP_061486.2:p.Asn57=
XM_017001273.2:c.171T>C	XP_016856762.1:p.Asn57=
NM_005562.3:c.171T>C MANE Select	NP_005553.2:p.Asn57=
NM_018891.3:c.171T>C	NP_061486.2:p.Asn57=