Canonical Allele Identifier: CA352745391
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs2045472661
gnomAD v3: 3-49130820-A-G
gnomAD v4: 3-49130820-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130820A>G , CM000665.2:g.49130820A>G GRCh38
NC_000003.11:g.49168253A>G , CM000665.1:g.49168253A>G GRCh37
NC_000003.10:g.49143257A>G NCBI36
NG_008094.1:g.7347T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.956T>C MANE Select ENSP00000307156.4:p.Leu319Pro
ENST00000305544.8:c.956T>C ENSP00000307156.4:p.Leu319Pro
ENST00000418109.5:c.956T>C ENSP00000388325.1:p.Leu319Pro
NM_002292.3:c.956T>C NP_002283.3:p.Leu319Pro
XM_005265127.3:c.956T>C XP_005265184.1:p.Leu319Pro
XM_005265127.4:c.956T>C XP_005265184.1:p.Leu319Pro
NM_002292.4:c.956T>C MANE Select NP_002283.3:p.Leu319Pro