Canonical Allele Identifier: CA352744345

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49130738-A-G
• MyVariant Identifiers: chr3:g.49168171A>G (hg19) ; chr3:g.49130738A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130738A>G , CM000665.2:g.49130738A>G	GRCh38
NC_000003.11:g.49168171A>G , CM000665.1:g.49168171A>G	GRCh37
NC_000003.10:g.49143175A>G	NCBI36
NG_008094.1:g.7429T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.1036+2T>C MANE Select	ENSP00000307156.4:n.1036+2T>C
ENST00000305544.8:c.1036+2T>C	ENSP00000307156.4:n.1036+2T>C
ENST00000418109.5:c.1036+2T>C	ENSP00000388325.1:n.1036+2T>C
NM_002292.3:c.1036+2T>C	NP_002283.3:n.1036+2T>C
XM_005265127.3:c.1036+2T>C	XP_005265184.1:n.1036+2T>C
XM_005265127.4:c.1036+2T>C	XP_005265184.1:n.1036+2T>C
NM_002292.4:c.1036+2T>C MANE Select	NP_002283.3:n.1036+2T>C