Canonical Allele Identifier: CA451935778

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2418943
• ClinVar RCV Id: RCV003112187
• dbSNP Id: rs749162150
• gnomAD v3: 6-129505271-CA-C
• gnomAD v4: 6-129505271-CA-C
• COSMIC: COSM1440410
• MyVariant Identifiers: chr6:g.129826417del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505277del , CM000668.2:g.129505277del	GRCh38
NC_000006.11:g.129826422del , CM000668.1:g.129826422del	GRCh37
NC_000006.10:g.129868115del	NCBI36
NG_008678.1:g.627137del , LRG_409:g.627137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.690del	ENSP00000510626.1:p.Ala231ProfsTer27
ENST00000498257.6:c.690del	ENSP00000510533.1:p.Ala231ProfsTer27
ENST00000617695.5:c.8613del	ENSP00000481744.2:p.Ala2872ProfsTer27
ENST00000618192.5:c.8889del	ENSP00000480802.2:p.Ala2964ProfsTer27
ENST00000688198.1:n.1603del
ENST00000688799.1:c.690del	ENSP00000508458.1:p.Ala231ProfsTer27
ENST00000690858.1:n.1619del
ENST00000693461.1:n.962del
ENST00000421865.3:c.8625del MANE Select	ENSP00000400365.2:p.Ala2876ProfsTer27
ENST00000421865.2:c.8625del	ENSP00000400365.2:p.Ala2876ProfsTer27
ENST00000617695.4:c.8613del	ENSP00000481744.1:p.Ala2872ProfsTer27
ENST00000618192.4:c.8622del	ENSP00000480802.1:p.Ala2875ProfsTer27
NM_000426.3:c.8625del , LRG_409t1:c.8625del	NP_000417.2:p.Ala2876ProfsTer27
NM_001079823.1:c.8613del	NP_001073291.1:p.Ala2872ProfsTer27
XM_005266981.2:c.8889del	XP_005267038.1:p.Ala2964ProfsTer27
XM_005266982.2:c.8877del	XP_005267039.1:p.Ala2960ProfsTer27
XM_011535820.1:c.8883del	XP_011534122.1:p.Ala2962ProfsTer27
XR_942984.1:n.1461-2481del
XR_942985.1:n.1325-2481del
XM_005266981.3:c.8889del	XP_005267038.1:p.Ala2964ProfsTer27
XM_005266982.3:c.8877del	XP_005267039.1:p.Ala2960ProfsTer27
XM_011535820.2:c.8883del	XP_011534122.1:p.Ala2962ProfsTer27
XM_017010851.2:c.8895del	XP_016866340.1:p.Ala2966ProfsTer27
XM_017010852.1:c.7020del	XP_016866341.1:p.Ala2341ProfsTer27
XR_001743859.1:n.3901-2481del
XR_001743860.1:n.1180-2481del
XR_001743861.1:n.1347-2481del
XR_001743863.1:n.883-2481del
XR_002956395.1:n.9132-2481del
XR_002956396.1:n.3127-2481del
NM_000426.4:c.8625del MANE Select	NP_000417.3:p.Ala2876ProfsTer27
NM_001079823.2:c.8613del	NP_001073291.2:p.Ala2872ProfsTer27