Canonical Allele Identifier: CA352695337
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49123138-A-C
MyVariant Identifiers: chr3:g.49160571A>C (hg19) chr3:g.49123138A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123138A>C , CM000665.2:g.49123138A>C GRCh38
NC_000003.11:g.49160571A>C , CM000665.1:g.49160571A>C GRCh37
NC_000003.10:g.49135575A>C NCBI36
NG_008094.1:g.15029T>G
NG_054716.1:g.2801T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4218T>G MANE Select ENSP00000307156.4:p.Asn1406Lys
ENST00000305544.8:c.4218T>G ENSP00000307156.4:p.Asn1406Lys
ENST00000418109.5:c.4218T>G ENSP00000388325.1:p.Asn1406Lys
ENST00000469665.1:n.448T>G
NM_002292.3:c.4218T>G NP_002283.3:p.Asn1406Lys
XM_005265127.3:c.4218T>G XP_005265184.1:p.Asn1406Lys
XM_005265127.4:c.4218T>G XP_005265184.1:p.Asn1406Lys
NM_002292.4:c.4218T>G MANE Select NP_002283.3:p.Asn1406Lys
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