Canonical Allele Identifier: CA2393839

Gene: LAMB2

Linked Data

• dbSNP Id: rs747133455
• ExAC: 3:49160531 C / T
• gnomAD v2: 3-49160531-C-T
• gnomAD v4: 3-49123098-C-T
• MyVariant Identifiers: chr3:g.49160531C>T (hg19) ; chr3:g.49123098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49123098C>T , CM000665.2:g.49123098C>T	GRCh38
NC_000003.11:g.49160531C>T , CM000665.1:g.49160531C>T	GRCh37
NC_000003.10:g.49135535C>T	NCBI36
NG_008094.1:g.15069G>A
NG_054716.1:g.2841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4224+34G>A MANE Select	ENSP00000307156.4:n.4224+34G>A
ENST00000305544.8:c.4224+34G>A	ENSP00000307156.4:n.4224+34G>A
ENST00000418109.5:c.4224+34G>A	ENSP00000388325.1:n.4224+34G>A
ENST00000469665.1:n.488G>A
NM_002292.3:c.4224+34G>A	NP_002283.3:n.4224+34G>A
XM_005265127.3:c.4224+34G>A	XP_005265184.1:n.4224+34G>A
XM_005265127.4:c.4224+34G>A	XP_005265184.1:n.4224+34G>A
NM_002292.4:c.4224+34G>A MANE Select	NP_002283.3:n.4224+34G>A