Canonical Allele Identifier: CA365628479

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2698877
• ClinVar RCV Id: RCV003575164
• MyVariant Identifiers: chr6:g.129802585G>T (hg19) ; chr6:g.129481440G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481440G>T , CM000668.2:g.129481440G>T	GRCh38
NC_000006.11:g.129802585G>T , CM000668.1:g.129802585G>T	GRCh37
NC_000006.10:g.129844278G>T	NCBI36
NG_008678.1:g.603300G>T , LRG_409:g.603300G>T

Transcript Alleles

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