Canonical Allele Identifier: CA2393838

Gene: LAMB2

Linked Data

• dbSNP Id: rs373103171
• ExAC: 3:49160530 A / G
• gnomAD v2: 3-49160530-A-G
• gnomAD v3: 3-49123097-A-G
• gnomAD v4: 3-49123097-A-G
• MyVariant Identifiers: chr3:g.49160530A>G (hg19) ; chr3:g.49123097A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49123097A>G , CM000665.2:g.49123097A>G	GRCh38
NC_000003.11:g.49160530A>G , CM000665.1:g.49160530A>G	GRCh37
NC_000003.10:g.49135534A>G	NCBI36
NG_008094.1:g.15070T>C
NG_054716.1:g.2842T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4224+35T>C MANE Select	ENSP00000307156.4:n.4224+35T>C
ENST00000305544.8:c.4224+35T>C	ENSP00000307156.4:n.4224+35T>C
ENST00000418109.5:c.4224+35T>C	ENSP00000388325.1:n.4224+35T>C
ENST00000469665.1:n.489T>C
NM_002292.3:c.4224+35T>C	NP_002283.3:n.4224+35T>C
XM_005265127.3:c.4224+35T>C	XP_005265184.1:n.4224+35T>C
XM_005265127.4:c.4224+35T>C	XP_005265184.1:n.4224+35T>C
NM_002292.4:c.4224+35T>C MANE Select	NP_002283.3:n.4224+35T>C