Canonical Allele Identifier: CA3994650

Gene: LAMA2

Linked Data

• dbSNP Id: rs765587894
• ExAC: 6:129802623 G / A
• gnomAD v2: 6-129802623-G-A
• gnomAD v4: 6-129481478-G-A
• MyVariant Identifiers: chr6:g.129802623G>A (hg19) ; chr6:g.129481478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481478G>A , CM000668.2:g.129481478G>A	GRCh38
NC_000006.11:g.129802623G>A , CM000668.1:g.129802623G>A	GRCh37
NC_000006.10:g.129844316G>A	NCBI36
NG_008678.1:g.603338G>A , LRG_409:g.603338G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7737+39G>A	ENSP00000481744.2:n.7737+39G>A
ENST00000618192.5:c.8013+39G>A	ENSP00000480802.2:n.8013+39G>A
ENST00000421865.3:c.7749+39G>A MANE Select	ENSP00000400365.2:n.7749+39G>A
ENST00000421865.2:c.7749+39G>A	ENSP00000400365.2:n.7749+39G>A
ENST00000617695.4:c.7737+39G>A	ENSP00000481744.1:n.7737+39G>A
ENST00000618192.4:c.7746+39G>A	ENSP00000480802.1:n.7746+39G>A
NM_000426.3:c.7749+39G>A , LRG_409t1:c.7749+39G>A	NP_000417.2:n.7749+39G>A
NM_001079823.1:c.7737+39G>A	NP_001073291.1:n.7737+39G>A
XM_005266981.2:c.8013+39G>A	XP_005267038.1:n.8013+39G>A
XM_005266982.2:c.8001+39G>A	XP_005267039.1:n.8001+39G>A
XM_011535820.1:c.8007+39G>A	XP_011534122.1:n.8007+39G>A
XM_005266981.3:c.8013+39G>A	XP_005267038.1:n.8013+39G>A
XM_005266982.3:c.8001+39G>A	XP_005267039.1:n.8001+39G>A
XM_011535820.2:c.8007+39G>A	XP_011534122.1:n.8007+39G>A
XM_017010851.2:c.8019+39G>A	XP_016866340.1:n.8019+39G>A
XM_017010852.1:c.6144+39G>A	XP_016866341.1:n.6144+39G>A
NM_000426.4:c.7749+39G>A MANE Select	NP_000417.3:n.7749+39G>A
NM_001079823.2:c.7737+39G>A	NP_001073291.2:n.7737+39G>A