Canonical Allele Identifier: CA352745613
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49168263T>C (hg19) chr3:g.49130830T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130830T>C , CM000665.2:g.49130830T>C GRCh38
NC_000003.11:g.49168263T>C , CM000665.1:g.49168263T>C GRCh37
NC_000003.10:g.49143267T>C NCBI36
NG_008094.1:g.7337A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.946A>G MANE Select ENSP00000307156.4:p.Thr316Ala
ENST00000305544.8:c.946A>G ENSP00000307156.4:p.Thr316Ala
ENST00000418109.5:c.946A>G ENSP00000388325.1:p.Thr316Ala
NM_002292.3:c.946A>G NP_002283.3:p.Thr316Ala
XM_005265127.3:c.946A>G XP_005265184.1:p.Thr316Ala
XM_005265127.4:c.946A>G XP_005265184.1:p.Thr316Ala
NM_002292.4:c.946A>G MANE Select NP_002283.3:p.Thr316Ala
Search 100 bp 5'
Search 100 bp 3'