Canonical Allele Identifier: CA74487897
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1042496727
gnomAD v2: 3-49168180-G-A
gnomAD v4: 3-49130747-G-A
MyVariant Identifiers: chr3:g.49168180G>A (hg19) chr3:g.49130747G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130747G>A , CM000665.2:g.49130747G>A GRCh38
NC_000003.11:g.49168180G>A , CM000665.1:g.49168180G>A GRCh37
NC_000003.10:g.49143184G>A NCBI36
NG_008094.1:g.7420C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.1029C>T MANE Select ENSP00000307156.4:p.Ala343=
ENST00000305544.8:c.1029C>T ENSP00000307156.4:p.Ala343=
ENST00000418109.5:c.1029C>T ENSP00000388325.1:p.Ala343=
NM_002292.3:c.1029C>T NP_002283.3:p.Ala343=
XM_005265127.3:c.1029C>T XP_005265184.1:p.Ala343=
XM_005265127.4:c.1029C>T XP_005265184.1:p.Ala343=
NM_002292.4:c.1029C>T MANE Select NP_002283.3:p.Ala343=
Search 100 bp 5'
Search 100 bp 3'