Canonical Allele Identifier: CA365612902

Gene: LAMA2

Linked Data

• dbSNP Id: rs1774536659
• MyVariant Identifiers: chr6:g.129636717G>A (hg19) ; chr6:g.129315572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315572G>A , CM000668.2:g.129315572G>A	GRCh38
NC_000006.11:g.129636717G>A , CM000668.1:g.129636717G>A	GRCh37
NC_000006.10:g.129678410G>A	NCBI36
NG_008678.1:g.437432G>A , LRG_409:g.437432G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3652G>A	ENSP00000481744.2:p.Val1218Ile
ENST00000618192.5:c.3916G>A	ENSP00000480802.2:p.Val1306Ile
ENST00000421865.3:c.3652G>A MANE Select	ENSP00000400365.2:p.Val1218Ile
ENST00000421865.2:c.3652G>A	ENSP00000400365.2:p.Val1218Ile
ENST00000617695.4:c.3652G>A	ENSP00000481744.1:p.Val1218Ile
ENST00000618192.4:c.3652G>A	ENSP00000480802.1:p.Val1218Ile
NM_000426.3:c.3652G>A , LRG_409t1:c.3652G>A	NP_000417.2:p.Val1218Ile
NM_001079823.1:c.3652G>A	NP_001073291.1:p.Val1218Ile
XM_005266981.2:c.3916G>A	XP_005267038.1:p.Val1306Ile
XM_005266982.2:c.3916G>A	XP_005267039.1:p.Val1306Ile
XM_011535820.1:c.3916G>A	XP_011534122.1:p.Val1306Ile
XM_005266981.3:c.3916G>A	XP_005267038.1:p.Val1306Ile
XM_005266982.3:c.3916G>A	XP_005267039.1:p.Val1306Ile
XM_011535820.2:c.3916G>A	XP_011534122.1:p.Val1306Ile
XM_017010851.2:c.3922G>A	XP_016866340.1:p.Val1308Ile
XM_017010852.1:c.2047G>A	XP_016866341.1:p.Val683Ile
XM_017010853.1:c.3916G>A	XP_016866342.1:p.Val1306Ile
NM_000426.4:c.3652G>A MANE Select	NP_000417.3:p.Val1218Ile
NM_001079823.2:c.3652G>A	NP_001073291.2:p.Val1218Ile