Canonical Allele Identifier: CA352745231

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49168243C>G (hg19) ; chr3:g.49130810C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130810C>G , CM000665.2:g.49130810C>G	GRCh38
NC_000003.11:g.49168243C>G , CM000665.1:g.49168243C>G	GRCh37
NC_000003.10:g.49143247C>G	NCBI36
NG_008094.1:g.7357G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.966G>C MANE Select	ENSP00000307156.4:p.Glu322Asp
ENST00000305544.8:c.966G>C	ENSP00000307156.4:p.Glu322Asp
ENST00000418109.5:c.966G>C	ENSP00000388325.1:p.Glu322Asp
NM_002292.3:c.966G>C	NP_002283.3:p.Glu322Asp
XM_005265127.3:c.966G>C	XP_005265184.1:p.Glu322Asp
XM_005265127.4:c.966G>C	XP_005265184.1:p.Glu322Asp
NM_002292.4:c.966G>C MANE Select	NP_002283.3:p.Glu322Asp