Canonical Allele Identifier: CA74476313
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs939681914
gnomAD v2: 3-49160227-G-A
gnomAD v3: 3-49122794-G-A
gnomAD v4: 3-49122794-G-A
MyVariant Identifiers: chr3:g.49160227G>A (hg19) chr3:g.49122794G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122794G>A , CM000665.2:g.49122794G>A GRCh38
NC_000003.11:g.49160227G>A , CM000665.1:g.49160227G>A GRCh37
NC_000003.10:g.49135231G>A NCBI36
NG_008094.1:g.15373C>T
NG_054716.1:g.3145C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4483C>T MANE Select ENSP00000307156.4:p.Leu1495=
ENST00000305544.8:c.4483C>T ENSP00000307156.4:p.Leu1495=
ENST00000418109.5:c.4483C>T ENSP00000388325.1:p.Leu1495=
ENST00000469665.1:n.792C>T
NM_002292.3:c.4483C>T NP_002283.3:p.Leu1495=
XM_005265127.3:c.4483C>T XP_005265184.1:p.Leu1495=
XM_005265127.4:c.4483C>T XP_005265184.1:p.Leu1495=
NM_002292.4:c.4483C>T MANE Select NP_002283.3:p.Leu1495=
Search 100 bp 5'
Search 100 bp 3'