Canonical Allele Identifier: CA365828376

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.128883358G>T , CM000668.2:g.128883358G>T	GRCh38
NC_000006.11:g.129204503G>T , CM000668.1:g.129204503G>T	GRCh37
NC_000006.10:g.129246196G>T	NCBI36
NG_008678.1:g.5218G>T , LRG_409:g.5218G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.112+1G>T MANE Select	NP_000417.3:n.112+1G>T
ENST00000421865.3:c.112+1G>T MANE Select	ENSP00000400365.2:n.112+1G>T
NM_000426.3:c.112+1G>T , LRG_409t1:c.112+1G>T	NP_000417.2:n.112+1G>T
NM_001079823.1:c.112+1G>T	NP_001073291.1:n.112+1G>T
NM_001079823.2:c.112+1G>T	NP_001073291.2:n.112+1G>T
ENST00000421865.2:c.112+1G>T	ENSP00000400365.2:n.112+1G>T
ENST00000466230.1:n.43+1G>T
ENST00000466230.2:c.43+1G>T	ENSP00000509691.1:n.43+1G>T
ENST00000617695.4:c.112+1G>T	ENSP00000481744.1:n.112+1G>T
ENST00000617695.5:c.112+1G>T	ENSP00000481744.2:n.112+1G>T
ENST00000618192.4:c.112+1G>T	ENSP00000480802.1:n.112+1G>T
ENST00000618192.5:c.112+1G>T	ENSP00000480802.2:n.112+1G>T
ENST00000686577.1:n.178+1G>T
ENST00000686599.1:n.217+1G>T
XM_005266981.2:c.112+1G>T	XP_005267038.1:n.112+1G>T
XM_005266981.3:c.112+1G>T	XP_005267038.1:n.112+1G>T
XM_005266982.2:c.112+1G>T	XP_005267039.1:n.112+1G>T
XM_005266982.3:c.112+1G>T	XP_005267039.1:n.112+1G>T
XM_011535820.1:c.112+1G>T	XP_011534122.1:n.112+1G>T
XM_011535820.2:c.112+1G>T	XP_011534122.1:n.112+1G>T
XM_017010853.1:c.112+1G>T	XP_016866342.1:n.112+1G>T