Canonical Allele Identifier: CA451953135

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129049952T>C , CM000668.2:g.129049952T>C	GRCh38
NC_000006.11:g.129371097T>C , CM000668.1:g.129371097T>C	GRCh37
NC_000006.10:g.129412790T>C	NCBI36
NG_008678.1:g.171812T>C , LRG_409:g.171812T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.147T>C MANE Select	NP_000417.3:p.Asn49=
ENST00000421865.3:c.147T>C MANE Select	ENSP00000400365.2:p.Asn49=
NM_000426.3:c.147T>C , LRG_409t1:c.147T>C	NP_000417.2:p.Asn49=
NM_001079823.1:c.147T>C	NP_001073291.1:p.Asn49=
NM_001079823.2:c.147T>C	NP_001073291.2:p.Asn49=
ENST00000421865.2:c.147T>C	ENSP00000400365.2:p.Asn49=
ENST00000466230.1:n.259T>C
ENST00000466230.2:c.378T>C	ENSP00000509691.1:n.378T>C
ENST00000617695.4:c.147T>C	ENSP00000481744.1:p.Asn49=
ENST00000617695.5:c.147T>C	ENSP00000481744.2:p.Asn49=
ENST00000618192.4:c.147T>C	ENSP00000480802.1:p.Asn49=
ENST00000618192.5:c.147T>C	ENSP00000480802.2:p.Asn49=
ENST00000686577.1:n.213T>C
ENST00000686599.1:n.252T>C
ENST00000689044.1:n.37T>C
XM_005266981.2:c.147T>C	XP_005267038.1:p.Asn49=
XM_005266981.3:c.147T>C	XP_005267038.1:p.Asn49=
XM_005266982.2:c.147T>C	XP_005267039.1:p.Asn49=
XM_005266982.3:c.147T>C	XP_005267039.1:p.Asn49=
XM_011535820.1:c.147T>C	XP_011534122.1:p.Asn49=
XM_011535820.2:c.147T>C	XP_011534122.1:p.Asn49=
XM_017010851.2:c.153T>C	XP_016866340.1:p.Asn51=
XM_017010853.1:c.147T>C	XP_016866342.1:p.Asn49=