Canonical Allele Identifier: CA3994767

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129492472G>A , CM000668.2:g.129492472G>A	GRCh38
NC_000006.11:g.129813617G>A , CM000668.1:g.129813617G>A	GRCh37
NC_000006.10:g.129855310G>A	NCBI36
NG_008678.1:g.614332G>A , LRG_409:g.614332G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8233G>A MANE Select	NP_000417.3:p.Val2745Ile
ENST00000421865.3:c.8233G>A MANE Select	ENSP00000400365.2:p.Val2745Ile
NM_000426.3:c.8233G>A , LRG_409t1:c.8233G>A	NP_000417.2:p.Val2745Ile
NM_001079823.1:c.8221G>A	NP_001073291.1:p.Val2741Ile
NM_001079823.2:c.8221G>A	NP_001073291.2:p.Val2741Ile
ENST00000421865.2:c.8233G>A	ENSP00000400365.2:p.Val2745Ile
ENST00000494137.2:c.298G>A	ENSP00000510626.1:p.Val100Ile
ENST00000498257.5:n.546G>A
ENST00000498257.6:c.298G>A	ENSP00000510533.1:p.Val100Ile
ENST00000617695.4:c.8221G>A	ENSP00000481744.1:p.Val2741Ile
ENST00000617695.5:c.8221G>A	ENSP00000481744.2:p.Val2741Ile
ENST00000618192.4:c.8230G>A	ENSP00000480802.1:p.Val2744Ile
ENST00000618192.5:c.8497G>A	ENSP00000480802.2:p.Val2833Ile
ENST00000688198.1:n.1211G>A
ENST00000688799.1:c.298G>A	ENSP00000508458.1:p.Val100Ile
ENST00000690858.1:n.1227G>A
XM_005266981.2:c.8497G>A	XP_005267038.1:p.Val2833Ile
XM_005266981.3:c.8497G>A	XP_005267038.1:p.Val2833Ile
XM_005266982.2:c.8485G>A	XP_005267039.1:p.Val2829Ile
XM_005266982.3:c.8485G>A	XP_005267039.1:p.Val2829Ile
XM_011535820.1:c.8491G>A	XP_011534122.1:p.Val2831Ile
XM_011535820.2:c.8491G>A	XP_011534122.1:p.Val2831Ile
XM_017010851.2:c.8503G>A	XP_016866340.1:p.Val2835Ile
XM_017010852.1:c.6628G>A	XP_016866341.1:p.Val2210Ile