Canonical Allele Identifier: CA352744694
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49130770-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130770C>A , CM000665.2:g.49130770C>A GRCh38
NC_000003.11:g.49168203C>A , CM000665.1:g.49168203C>A GRCh37
NC_000003.10:g.49143207C>A NCBI36
NG_008094.1:g.7397G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.1006G>T MANE Select ENSP00000307156.4:p.Ala336Ser
ENST00000305544.8:c.1006G>T ENSP00000307156.4:p.Ala336Ser
ENST00000418109.5:c.1006G>T ENSP00000388325.1:p.Ala336Ser
NM_002292.3:c.1006G>T NP_002283.3:p.Ala336Ser
XM_005265127.3:c.1006G>T XP_005265184.1:p.Ala336Ser
XM_005265127.4:c.1006G>T XP_005265184.1:p.Ala336Ser
NM_002292.4:c.1006G>T MANE Select NP_002283.3:p.Ala336Ser