Canonical Allele Identifier: CA2395047

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 346014
• ClinVar RCV Id: RCV000271632 ; RCV000366666 ; RCV001516710 ; RCV001753813 ; RCV003922518
• dbSNP Id: rs202057459
• ExAC: 3:49170072 G / T
• gnomAD v2: 3-49170072-G-T
• gnomAD v3: 3-49132639-G-T
• gnomAD v4: 3-49132639-G-T
• MyVariant Identifiers: chr3:g.49170072G>T (hg19) ; chr3:g.49132639G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49132639G>T , CM000665.2:g.49132639G>T	GRCh38
NC_000003.11:g.49170072G>T , CM000665.1:g.49170072G>T	GRCh37
NC_000003.10:g.49145076G>T	NCBI36
NG_008094.1:g.5528C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.101C>A MANE Select	ENSP00000307156.4:p.Ala34Asp
ENST00000305544.8:c.101C>A	ENSP00000307156.4:p.Ala34Asp
ENST00000418109.5:c.101C>A	ENSP00000388325.1:p.Ala34Asp
ENST00000494831.1:c.-28+316C>A	ENSP00000444751.1:n.-28+316C>A
NM_002292.3:c.101C>A	NP_002283.3:p.Ala34Asp
XM_005265127.3:c.101C>A	XP_005265184.1:p.Ala34Asp
XM_005265127.4:c.101C>A	XP_005265184.1:p.Ala34Asp
NM_002292.4:c.101C>A MANE Select	NP_002283.3:p.Ala34Asp