Canonical Allele Identifier: CA2394939

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 346010
• ClinVar RCV Id: RCV000293315 ; RCV000348499 ; RCV002520161
• dbSNP Id: rs117575041
• ExAC: 3:49169637 G / A
• gnomAD v2: 3-49169637-G-A
• gnomAD v3: 3-49132204-G-A
• gnomAD v4: 3-49132204-G-A
• MyVariant Identifiers: chr3:g.49169637G>A (hg19) ; chr3:g.49132204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49132204G>A , CM000665.2:g.49132204G>A	GRCh38
NC_000003.11:g.49169637G>A , CM000665.1:g.49169637G>A	GRCh37
NC_000003.10:g.49144641G>A	NCBI36
NG_008094.1:g.5963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.386-15C>T MANE Select	ENSP00000307156.4:n.386-15C>T
ENST00000305544.8:c.386-15C>T	ENSP00000307156.4:n.386-15C>T
ENST00000418109.5:c.386-15C>T	ENSP00000388325.1:n.386-15C>T
ENST00000494831.1:c.-27-50C>T	ENSP00000444751.1:n.-27-50C>T
NM_002292.3:c.386-15C>T	NP_002283.3:n.386-15C>T
XM_005265127.3:c.386-15C>T	XP_005265184.1:n.386-15C>T
XM_005265127.4:c.386-15C>T	XP_005265184.1:n.386-15C>T
NM_002292.4:c.386-15C>T MANE Select	NP_002283.3:n.386-15C>T