Canonical Allele Identifier: CA543048889
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1327276840
gnomAD v2: 3-49168161-G-T
gnomAD v4: 3-49130728-G-T
MyVariant Identifiers: chr3:g.49168161G>T (hg19) chr3:g.49130728G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130728G>T , CM000665.2:g.49130728G>T GRCh38
NC_000003.11:g.49168161G>T , CM000665.1:g.49168161G>T GRCh37
NC_000003.10:g.49143165G>T NCBI36
NG_008094.1:g.7439C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.1036+12C>A MANE Select ENSP00000307156.4:n.1036+12C>A
ENST00000305544.8:c.1036+12C>A ENSP00000307156.4:n.1036+12C>A
ENST00000418109.5:c.1036+12C>A ENSP00000388325.1:n.1036+12C>A
NM_002292.3:c.1036+12C>A NP_002283.3:n.1036+12C>A
XM_005265127.3:c.1036+12C>A XP_005265184.1:n.1036+12C>A
XM_005265127.4:c.1036+12C>A XP_005265184.1:n.1036+12C>A
NM_002292.4:c.1036+12C>A MANE Select NP_002283.3:n.1036+12C>A
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