Canonical Allele Identifier: CA433633922

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122972-C-A
• MyVariant Identifiers: chr3:g.49160405C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122972C>A , CM000665.2:g.49122972C>A	GRCh38
NC_000003.11:g.49160405C>A , CM000665.1:g.49160405C>A	GRCh37
NC_000003.10:g.49135409C>A	NCBI36
NG_008094.1:g.15195G>T
NG_054716.1:g.2967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4305G>T MANE Select	ENSP00000307156.4:p.Pro1435=
ENST00000305544.8:c.4305G>T	ENSP00000307156.4:p.Pro1435=
ENST00000418109.5:c.4305G>T	ENSP00000388325.1:p.Pro1435=
ENST00000469665.1:n.614G>T
NM_002292.3:c.4305G>T	NP_002283.3:p.Pro1435=
XM_005265127.3:c.4305G>T	XP_005265184.1:p.Pro1435=
XM_005265127.4:c.4305G>T	XP_005265184.1:p.Pro1435=
NM_002292.4:c.4305G>T MANE Select	NP_002283.3:p.Pro1435=