Canonical Allele Identifier: CA543048892
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs979771039
gnomAD v2: 3-49168299-G-A
gnomAD v4: 3-49130866-G-A
MyVariant Identifiers: chr3:g.49168299G>A (hg19) chr3:g.49130866G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130866G>A , CM000665.2:g.49130866G>A GRCh38
NC_000003.11:g.49168299G>A , CM000665.1:g.49168299G>A GRCh37
NC_000003.10:g.49143303G>A NCBI36
NG_008094.1:g.7301C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.916-6C>T MANE Select ENSP00000307156.4:n.916-6C>T
ENST00000305544.8:c.916-6C>T ENSP00000307156.4:n.916-6C>T
ENST00000418109.5:c.916-6C>T ENSP00000388325.1:n.916-6C>T
NM_002292.3:c.916-6C>T NP_002283.3:n.916-6C>T
XM_005265127.3:c.916-6C>T XP_005265184.1:n.916-6C>T
XM_005265127.4:c.916-6C>T XP_005265184.1:n.916-6C>T
NM_002292.4:c.916-6C>T MANE Select NP_002283.3:n.916-6C>T
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