Canonical Allele Identifier: CA365629264

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129486558A>T , CM000668.2:g.129486558A>T	GRCh38
NC_000006.11:g.129807703A>T , CM000668.1:g.129807703A>T	GRCh37
NC_000006.10:g.129849396A>T	NCBI36
NG_008678.1:g.608418A>T , LRG_409:g.608418A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7834A>T MANE Select	NP_000417.3:p.Arg2612Ter
ENST00000421865.3:c.7834A>T MANE Select	ENSP00000400365.2:p.Arg2612Ter
NM_000426.3:c.7834A>T , LRG_409t1:c.7834A>T	NP_000417.2:p.Arg2612Ter
NM_001079823.1:c.7822A>T	NP_001073291.1:p.Arg2608Ter
NM_001079823.2:c.7822A>T	NP_001073291.2:p.Arg2608Ter
ENST00000421865.2:c.7834A>T	ENSP00000400365.2:p.Arg2612Ter
ENST00000617695.4:c.7822A>T	ENSP00000481744.1:p.Arg2608Ter
ENST00000617695.5:c.7822A>T	ENSP00000481744.2:p.Arg2608Ter
ENST00000618192.4:c.7831A>T	ENSP00000480802.1:p.Arg2611Ter
ENST00000618192.5:c.8098A>T	ENSP00000480802.2:p.Arg2700Ter
ENST00000688198.1:n.812A>T
XM_005266981.2:c.8098A>T	XP_005267038.1:p.Arg2700Ter
XM_005266981.3:c.8098A>T	XP_005267038.1:p.Arg2700Ter
XM_005266982.2:c.8086A>T	XP_005267039.1:p.Arg2696Ter
XM_005266982.3:c.8086A>T	XP_005267039.1:p.Arg2696Ter
XM_011535820.1:c.8092A>T	XP_011534122.1:p.Arg2698Ter
XM_011535820.2:c.8092A>T	XP_011534122.1:p.Arg2698Ter
XM_017010851.2:c.8104A>T	XP_016866340.1:p.Arg2702Ter
XM_017010852.1:c.6229A>T	XP_016866341.1:p.Arg2077Ter