Canonical Allele Identifier: CA2394747
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374660
ClinVar RCV Id: RCV001879270 RCV003164230
dbSNP Id: rs770959758
ExAC: 3:49168271 T / C
gnomAD v2: 3-49168271-T-C
gnomAD v3: 3-49130838-T-C
gnomAD v4: 3-49130838-T-C
MyVariant Identifiers: chr3:g.49168271T>C (hg19) chr3:g.49130838T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130838T>C , CM000665.2:g.49130838T>C GRCh38
NC_000003.11:g.49168271T>C , CM000665.1:g.49168271T>C GRCh37
NC_000003.10:g.49143275T>C NCBI36
NG_008094.1:g.7329A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.938A>G MANE Select ENSP00000307156.4:p.Lys313Arg
ENST00000305544.8:c.938A>G ENSP00000307156.4:p.Lys313Arg
ENST00000418109.5:c.938A>G ENSP00000388325.1:p.Lys313Arg
NM_002292.3:c.938A>G NP_002283.3:p.Lys313Arg
XM_005265127.3:c.938A>G XP_005265184.1:p.Lys313Arg
XM_005265127.4:c.938A>G XP_005265184.1:p.Lys313Arg
NM_002292.4:c.938A>G MANE Select NP_002283.3:p.Lys313Arg
Search 100 bp 5'
Search 100 bp 3'