Canonical Allele Identifier: CA365619075

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129460218-G-C
• MyVariant Identifiers: chr6:g.129781363G>C (hg19) ; chr6:g.129460218G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129460218G>C , CM000668.2:g.129460218G>C	GRCh38
NC_000006.11:g.129781363G>C , CM000668.1:g.129781363G>C	GRCh37
NC_000006.10:g.129823056G>C	NCBI36
NG_008678.1:g.582078G>C , LRG_409:g.582078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6886G>C	ENSP00000481744.2:p.Val2296Leu
ENST00000618192.5:c.7150G>C	ENSP00000480802.2:p.Val2384Leu
ENST00000684985.1:n.517G>C
ENST00000688150.1:n.225G>C
ENST00000421865.3:c.6886G>C MANE Select	ENSP00000400365.2:p.Val2296Leu
ENST00000421865.2:c.6886G>C	ENSP00000400365.2:p.Val2296Leu
ENST00000617695.4:c.6886G>C	ENSP00000481744.1:p.Val2296Leu
ENST00000618192.4:c.6883G>C	ENSP00000480802.1:p.Val2295Leu
NM_000426.3:c.6886G>C , LRG_409t1:c.6886G>C	NP_000417.2:p.Val2296Leu
NM_001079823.1:c.6886G>C	NP_001073291.1:p.Val2296Leu
XM_005266981.2:c.7150G>C	XP_005267038.1:p.Val2384Leu
XM_005266982.2:c.7150G>C	XP_005267039.1:p.Val2384Leu
XM_011535820.1:c.7144G>C	XP_011534122.1:p.Val2382Leu
XM_005266981.3:c.7150G>C	XP_005267038.1:p.Val2384Leu
XM_005266982.3:c.7150G>C	XP_005267039.1:p.Val2384Leu
XM_011535820.2:c.7144G>C	XP_011534122.1:p.Val2382Leu
XM_017010851.2:c.7156G>C	XP_016866340.1:p.Val2386Leu
XM_017010852.1:c.5281G>C	XP_016866341.1:p.Val1761Leu
NM_000426.4:c.6886G>C MANE Select	NP_000417.3:p.Val2296Leu
NM_001079823.2:c.6886G>C	NP_001073291.2:p.Val2296Leu