Canonical Allele Identifier: CA352745662
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49168266T>G (hg19) chr3:g.49130833T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130833T>G , CM000665.2:g.49130833T>G GRCh38
NC_000003.11:g.49168266T>G , CM000665.1:g.49168266T>G GRCh37
NC_000003.10:g.49143270T>G NCBI36
NG_008094.1:g.7334A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.943A>C MANE Select ENSP00000307156.4:p.Asn315His
ENST00000305544.8:c.943A>C ENSP00000307156.4:p.Asn315His
ENST00000418109.5:c.943A>C ENSP00000388325.1:p.Asn315His
NM_002292.3:c.943A>C NP_002283.3:p.Asn315His
XM_005265127.3:c.943A>C XP_005265184.1:p.Asn315His
XM_005265127.4:c.943A>C XP_005265184.1:p.Asn315His
NM_002292.4:c.943A>C MANE Select NP_002283.3:p.Asn315His
Search 100 bp 5'
Search 100 bp 3'