Canonical Allele Identifier: CA2393871
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs763696068
gnomAD v2: 3-49160678-G-T
gnomAD v4: 3-49123245-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123245G>T , CM000665.2:g.49123245G>T GRCh38
NC_000003.11:g.49160678G>T , CM000665.1:g.49160678G>T GRCh37
NC_000003.10:g.49135682G>T NCBI36
NG_008094.1:g.14922C>A
NG_054716.1:g.2694C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4111C>A MANE Select ENSP00000307156.4:p.Leu1371Met
ENST00000305544.8:c.4111C>A ENSP00000307156.4:p.Leu1371Met
ENST00000418109.5:c.4111C>A ENSP00000388325.1:p.Leu1371Met
ENST00000469665.1:n.341C>A
NM_002292.3:c.4111C>A NP_002283.3:p.Leu1371Met
XM_005265127.3:c.4111C>A XP_005265184.1:p.Leu1371Met
XM_005265127.4:c.4111C>A XP_005265184.1:p.Leu1371Met
NM_002292.4:c.4111C>A MANE Select NP_002283.3:p.Leu1371Met