Canonical Allele Identifier: CA2756174316
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130727A>C , CM000665.2:g.49130727A>C GRCh38
NC_000003.11:g.49168160A>C , CM000665.1:g.49168160A>C GRCh37
NC_000003.10:g.49143164A>C NCBI36
NG_008094.1:g.7440T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.1036+13T>G MANE Select ENSP00000307156.4:n.1036+13T>G
ENST00000305544.8:c.1036+13T>G ENSP00000307156.4:n.1036+13T>G
ENST00000418109.5:c.1036+13T>G ENSP00000388325.1:n.1036+13T>G
NM_002292.3:c.1036+13T>G NP_002283.3:n.1036+13T>G
XM_005265127.3:c.1036+13T>G XP_005265184.1:n.1036+13T>G
XM_005265127.4:c.1036+13T>G XP_005265184.1:n.1036+13T>G
NM_002292.4:c.1036+13T>G MANE Select NP_002283.3:n.1036+13T>G