Canonical Allele Identifier: CA2665699702
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49131991-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49131991T>C , CM000665.2:g.49131991T>C GRCh38
NC_000003.11:g.49169424T>C , CM000665.1:g.49169424T>C GRCh37
NC_000003.10:g.49144428T>C NCBI36
NG_008094.1:g.6176A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.459+125A>G MANE Select ENSP00000307156.4:n.459+125A>G
ENST00000305544.8:c.459+125A>G ENSP00000307156.4:n.459+125A>G
ENST00000418109.5:c.459+125A>G ENSP00000388325.1:n.459+125A>G
ENST00000494831.1:c.12+125A>G ENSP00000444751.1:n.12+125A>G
NM_002292.3:c.459+125A>G NP_002283.3:n.459+125A>G
XM_005265127.3:c.459+125A>G XP_005265184.1:n.459+125A>G
XM_005265127.4:c.459+125A>G XP_005265184.1:n.459+125A>G
NM_002292.4:c.459+125A>G MANE Select NP_002283.3:n.459+125A>G