Canonical Allele Identifier: CA2394668
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054836
ClinVar RCV Id: RCV001363420
dbSNP Id: rs760505149
ExAC: 3:49167678 G / A
gnomAD v2: 3-49167678-G-A
gnomAD v3: 3-49130245-G-A
gnomAD v4: 3-49130245-G-A
MyVariant Identifiers: chr3:g.49167678G>A (hg19) chr3:g.49130245G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130245G>A , CM000665.2:g.49130245G>A GRCh38
NC_000003.11:g.49167678G>A , CM000665.1:g.49167678G>A GRCh37
NC_000003.10:g.49142682G>A NCBI36
NG_008094.1:g.7922C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.1211C>T MANE Select ENSP00000307156.4:p.Pro404Leu
ENST00000305544.8:c.1211C>T ENSP00000307156.4:p.Pro404Leu
ENST00000418109.5:c.1211C>T ENSP00000388325.1:p.Pro404Leu
NM_002292.3:c.1211C>T NP_002283.3:p.Pro404Leu
XM_005265127.3:c.1211C>T XP_005265184.1:p.Pro404Leu
XM_005265127.4:c.1211C>T XP_005265184.1:p.Pro404Leu
NM_002292.4:c.1211C>T MANE Select NP_002283.3:p.Pro404Leu
Search 100 bp 5'
Search 100 bp 3'