Canonical Allele Identifier: CA365632498

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129492484G>C , CM000668.2:g.129492484G>C	GRCh38
NC_000006.11:g.129813629G>C , CM000668.1:g.129813629G>C	GRCh37
NC_000006.10:g.129855322G>C	NCBI36
NG_008678.1:g.614344G>C , LRG_409:g.614344G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8244+1G>C MANE Select	NP_000417.3:n.8244+1G>C
ENST00000421865.3:c.8244+1G>C MANE Select	ENSP00000400365.2:n.8244+1G>C
NM_000426.3:c.8244+1G>C , LRG_409t1:c.8244+1G>C	NP_000417.2:n.8244+1G>C
NM_001079823.1:c.8232+1G>C	NP_001073291.1:n.8232+1G>C
NM_001079823.2:c.8232+1G>C	NP_001073291.2:n.8232+1G>C
ENST00000421865.2:c.8244+1G>C	ENSP00000400365.2:n.8244+1G>C
ENST00000494137.2:c.309+1G>C	ENSP00000510626.1:n.309+1G>C
ENST00000498257.5:n.557+1G>C
ENST00000498257.6:c.309+1G>C	ENSP00000510533.1:n.309+1G>C
ENST00000617695.4:c.8232+1G>C	ENSP00000481744.1:n.8232+1G>C
ENST00000617695.5:c.8232+1G>C	ENSP00000481744.2:n.8232+1G>C
ENST00000618192.4:c.8241+1G>C	ENSP00000480802.1:n.8241+1G>C
ENST00000618192.5:c.8508+1G>C	ENSP00000480802.2:n.8508+1G>C
ENST00000688198.1:n.1222+1G>C
ENST00000688799.1:c.309+1G>C	ENSP00000508458.1:n.309+1G>C
ENST00000690858.1:n.1238+1G>C
XM_005266981.2:c.8508+1G>C	XP_005267038.1:n.8508+1G>C
XM_005266981.3:c.8508+1G>C	XP_005267038.1:n.8508+1G>C
XM_005266982.2:c.8496+1G>C	XP_005267039.1:n.8496+1G>C
XM_005266982.3:c.8496+1G>C	XP_005267039.1:n.8496+1G>C
XM_011535820.1:c.8502+1G>C	XP_011534122.1:n.8502+1G>C
XM_011535820.2:c.8502+1G>C	XP_011534122.1:n.8502+1G>C
XM_017010851.2:c.8514+1G>C	XP_016866340.1:n.8514+1G>C
XM_017010852.1:c.6639+1G>C	XP_016866341.1:n.6639+1G>C