Canonical Allele Identifier: CA2393843
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs761954508
ExAC: 3:49160544 C / A
gnomAD v2: 3-49160544-C-A
gnomAD v3: 3-49123111-C-A
gnomAD v4: 3-49123111-C-A
MyVariant Identifiers: chr3:g.49160544C>A (hg19) chr3:g.49123111C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123111C>A , CM000665.2:g.49123111C>A GRCh38
NC_000003.11:g.49160544C>A , CM000665.1:g.49160544C>A GRCh37
NC_000003.10:g.49135548C>A NCBI36
NG_008094.1:g.15056G>T
NG_054716.1:g.2828G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.4224+21G>T MANE Select ENSP00000307156.4:n.4224+21G>T
ENST00000305544.8:c.4224+21G>T ENSP00000307156.4:n.4224+21G>T
ENST00000418109.5:c.4224+21G>T ENSP00000388325.1:n.4224+21G>T
ENST00000469665.1:n.475G>T
NM_002292.3:c.4224+21G>T NP_002283.3:n.4224+21G>T
XM_005265127.3:c.4224+21G>T XP_005265184.1:n.4224+21G>T
XM_005265127.4:c.4224+21G>T XP_005265184.1:n.4224+21G>T
NM_002292.4:c.4224+21G>T MANE Select NP_002283.3:n.4224+21G>T
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