Canonical Allele Identifier: CA3994505

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1202228
• ClinVar RCV Id: RCV001567841
• dbSNP Id: rs140646349
• ExAC: 6:129786472 T / G
• gnomAD v2: 6-129786472-T-G
• gnomAD v3: 6-129465327-T-G
• gnomAD v4: 6-129465327-T-G
• MyVariant Identifiers: chr6:g.129786472T>G (hg19) ; chr6:g.129465327T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465327T>G , CM000668.2:g.129465327T>G	GRCh38
NC_000006.11:g.129786472T>G , CM000668.1:g.129786472T>G	GRCh37
NC_000006.10:g.129828165T>G	NCBI36
NG_008678.1:g.587187T>G , LRG_409:g.587187T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7300+38T>G	ENSP00000481744.2:n.7300+38T>G
ENST00000618192.5:c.7564+38T>G	ENSP00000480802.2:n.7564+38T>G
ENST00000684985.1:n.931+38T>G
ENST00000421865.3:c.7300+38T>G MANE Select	ENSP00000400365.2:n.7300+38T>G
ENST00000421865.2:c.7300+38T>G	ENSP00000400365.2:n.7300+38T>G
ENST00000617695.4:c.7300+38T>G	ENSP00000481744.1:n.7300+38T>G
ENST00000618192.4:c.7297+38T>G	ENSP00000480802.1:n.7297+38T>G
NM_000426.3:c.7300+38T>G , LRG_409t1:c.7300+38T>G	NP_000417.2:n.7300+38T>G
NM_001079823.1:c.7300+38T>G	NP_001073291.1:n.7300+38T>G
XM_005266981.2:c.7564+38T>G	XP_005267038.1:n.7564+38T>G
XM_005266982.2:c.7564+38T>G	XP_005267039.1:n.7564+38T>G
XM_011535820.1:c.7558+38T>G	XP_011534122.1:n.7558+38T>G
XM_005266981.3:c.7564+38T>G	XP_005267038.1:n.7564+38T>G
XM_005266982.3:c.7564+38T>G	XP_005267039.1:n.7564+38T>G
XM_011535820.2:c.7558+38T>G	XP_011534122.1:n.7558+38T>G
XM_017010851.2:c.7570+38T>G	XP_016866340.1:n.7570+38T>G
XM_017010852.1:c.5695+38T>G	XP_016866341.1:n.5695+38T>G
NM_000426.4:c.7300+38T>G MANE Select	NP_000417.3:n.7300+38T>G
NM_001079823.2:c.7300+38T>G	NP_001073291.2:n.7300+38T>G