Canonical Allele Identifier: CA352715765
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125025G>C , CM000665.2:g.49125025G>C GRCh38
NC_000003.11:g.49162458G>C , CM000665.1:g.49162458G>C GRCh37
NC_000003.10:g.49137462G>C NCBI36
NG_008094.1:g.13142C>G
NG_054716.1:g.914C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2865C>G MANE Select ENSP00000307156.4:p.His955Gln
ENST00000305544.8:c.2865C>G ENSP00000307156.4:p.His955Gln
ENST00000418109.5:c.2865C>G ENSP00000388325.1:p.His955Gln
ENST00000462930.5:n.272C>G
ENST00000464891.5:n.598C>G
ENST00000483057.1:n.465C>G
ENST00000486298.5:n.570C>G
ENST00000542580.1:n.180C>G
NM_002292.3:c.2865C>G NP_002283.3:p.His955Gln
XM_005265127.3:c.2865C>G XP_005265184.1:p.His955Gln
XM_005265127.4:c.2865C>G XP_005265184.1:p.His955Gln
NM_002292.4:c.2865C>G MANE Select NP_002283.3:p.His955Gln