Canonical Allele Identifier: CA907795073
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1370599410
gnomAD v3: 3-49131962-T-C
gnomAD v4: 3-49131962-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49131962T>C , CM000665.2:g.49131962T>C GRCh38
NC_000003.11:g.49169395T>C , CM000665.1:g.49169395T>C GRCh37
NC_000003.10:g.49144399T>C NCBI36
NG_008094.1:g.6205A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.459+154A>G MANE Select ENSP00000307156.4:n.459+154A>G
ENST00000305544.8:c.459+154A>G ENSP00000307156.4:n.459+154A>G
ENST00000418109.5:c.459+154A>G ENSP00000388325.1:n.459+154A>G
ENST00000494831.1:c.12+154A>G ENSP00000444751.1:n.12+154A>G
NM_002292.3:c.459+154A>G NP_002283.3:n.459+154A>G
XM_005265127.3:c.459+154A>G XP_005265184.1:n.459+154A>G
XM_005265127.4:c.459+154A>G XP_005265184.1:n.459+154A>G
NM_002292.4:c.459+154A>G MANE Select NP_002283.3:n.459+154A>G