Canonical Allele Identifier: CA365631550

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129445665A>T , CM000668.2:g.129445665A>T	GRCh38
NC_000006.11:g.129766810A>T , CM000668.1:g.129766810A>T	GRCh37
NC_000006.10:g.129808503A>T	NCBI36
NG_008678.1:g.567525A>T , LRG_409:g.567525A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.6275-2A>T MANE Select	NP_000417.3:n.6275-2A>T
ENST00000421865.3:c.6275-2A>T MANE Select	ENSP00000400365.2:n.6275-2A>T
NM_000426.3:c.6275-2A>T , LRG_409t1:c.6275-2A>T	NP_000417.2:n.6275-2A>T
NM_001079823.1:c.6275-2A>T	NP_001073291.1:n.6275-2A>T
NM_001079823.2:c.6275-2A>T	NP_001073291.2:n.6275-2A>T
ENST00000421865.2:c.6275-2A>T	ENSP00000400365.2:n.6275-2A>T
ENST00000617695.4:c.6273A>T	ENSP00000481744.1:p.Ala2091=
ENST00000617695.5:c.6275-2A>T	ENSP00000481744.2:n.6275-2A>T
ENST00000618192.4:c.6270A>T	ENSP00000480802.1:p.Thr2090=
ENST00000618192.5:c.6539-2A>T	ENSP00000480802.2:n.6539-2A>T
XM_005266981.2:c.6539-2A>T	XP_005267038.1:n.6539-2A>T
XM_005266981.3:c.6539-2A>T	XP_005267038.1:n.6539-2A>T
XM_005266982.2:c.6539-2A>T	XP_005267039.1:n.6539-2A>T
XM_005266982.3:c.6539-2A>T	XP_005267039.1:n.6539-2A>T
XM_011535820.1:c.6533-2A>T	XP_011534122.1:n.6533-2A>T
XM_011535820.2:c.6533-2A>T	XP_011534122.1:n.6533-2A>T
XM_017010851.2:c.6545-2A>T	XP_016866340.1:n.6545-2A>T
XM_017010852.1:c.4670-2A>T	XP_016866341.1:n.4670-2A>T