Canonical Allele Identifier: CA146118

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 92953
• ClinVar RCV Id: RCV000078763 ; RCV000351176 ; RCV001795055 ; RCV002055099
• dbSNP Id: rs17741922
• ExAC: 6:129636606 T / G
• gnomAD v2: 6-129636606-T-G
• gnomAD v3: 6-129315461-T-G
• gnomAD v4: 6-129315461-T-G
• MyVariant Identifiers: chr6:g.129636606T>G (hg19) ; chr6:g.129315461T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315461T>G , CM000668.2:g.129315461T>G	GRCh38
NC_000006.11:g.129636606T>G , CM000668.1:g.129636606T>G	GRCh37
NC_000006.10:g.129678299T>G	NCBI36
NG_008678.1:g.437321T>G , LRG_409:g.437321T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.3556-15T>G	ENSP00000481744.2:n.3556-15T>G
ENST00000618192.5:c.3820-15T>G	ENSP00000480802.2:n.3820-15T>G
ENST00000421865.3:c.3556-15T>G MANE Select	ENSP00000400365.2:n.3556-15T>G
ENST00000421865.2:c.3556-15T>G	ENSP00000400365.2:n.3556-15T>G
ENST00000617695.4:c.3556-15T>G	ENSP00000481744.1:n.3556-15T>G
ENST00000618192.4:c.3556-15T>G	ENSP00000480802.1:n.3556-15T>G
NM_000426.3:c.3556-15T>G , LRG_409t1:c.3556-15T>G	NP_000417.2:n.3556-15T>G
NM_001079823.1:c.3556-15T>G	NP_001073291.1:n.3556-15T>G
XM_005266981.2:c.3820-15T>G	XP_005267038.1:n.3820-15T>G
XM_005266982.2:c.3820-15T>G	XP_005267039.1:n.3820-15T>G
XM_011535820.1:c.3820-15T>G	XP_011534122.1:n.3820-15T>G
XM_005266981.3:c.3820-15T>G	XP_005267038.1:n.3820-15T>G
XM_005266982.3:c.3820-15T>G	XP_005267039.1:n.3820-15T>G
XM_011535820.2:c.3820-15T>G	XP_011534122.1:n.3820-15T>G
XM_017010851.2:c.3826-15T>G	XP_016866340.1:n.3826-15T>G
XM_017010852.1:c.1951-15T>G	XP_016866341.1:n.1951-15T>G
XM_017010853.1:c.3820-15T>G	XP_016866342.1:n.3820-15T>G
NM_000426.4:c.3556-15T>G MANE Select	NP_000417.3:n.3556-15T>G
NM_001079823.2:c.3556-15T>G	NP_001073291.2:n.3556-15T>G