Canonical Allele Identifier: CA352747087
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49131029A>C , CM000665.2:g.49131029A>C GRCh38
NC_000003.11:g.49168462A>C , CM000665.1:g.49168462A>C GRCh37
NC_000003.10:g.49143466A>C NCBI36
NG_008094.1:g.7138T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.836T>G MANE Select ENSP00000307156.4:p.Val279Gly
ENST00000305544.8:c.836T>G ENSP00000307156.4:p.Val279Gly
ENST00000418109.5:c.836T>G ENSP00000388325.1:p.Val279Gly
ENST00000494831.1:c.389T>G ENSP00000444751.1:p.Val130Gly
NM_002292.3:c.836T>G NP_002283.3:p.Val279Gly
XM_005265127.3:c.836T>G XP_005265184.1:p.Val279Gly
XM_005265127.4:c.836T>G XP_005265184.1:p.Val279Gly
NM_002292.4:c.836T>G MANE Select NP_002283.3:p.Val279Gly