Canonical Allele Identifier: CA220786

Gene: LAMA2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129453121G>A , CM000668.2:g.129453121G>A	GRCh38
NC_000006.11:g.129774266G>A , CM000668.1:g.129774266G>A	GRCh37
NC_000006.10:g.129815959G>A	NCBI36
NG_008678.1:g.574981G>A , LRG_409:g.574981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6563G>A	ENSP00000481744.2:p.Ser2188Asn
ENST00000618192.5:c.6827G>A	ENSP00000480802.2:p.Ser2276Asn
ENST00000684985.1:n.194G>A
ENST00000421865.3:c.6563G>A MANE Select	ENSP00000400365.2:p.Ser2188Asn
ENST00000421865.2:c.6563G>A	ENSP00000400365.2:p.Ser2188Asn
ENST00000617695.4:c.6563G>A	ENSP00000481744.1:p.Ser2188Asn
ENST00000618192.4:c.6560G>A	ENSP00000480802.1:p.Ser2187Asn
NM_000426.3:c.6563G>A , LRG_409t1:c.6563G>A	NP_000417.2:p.Ser2188Asn
NM_001079823.1:c.6563G>A	NP_001073291.1:p.Ser2188Asn
XM_005266981.2:c.6827G>A	XP_005267038.1:p.Ser2276Asn
XM_005266982.2:c.6827G>A	XP_005267039.1:p.Ser2276Asn
XM_011535820.1:c.6821G>A	XP_011534122.1:p.Ser2274Asn
XM_005266981.3:c.6827G>A	XP_005267038.1:p.Ser2276Asn
XM_005266982.3:c.6827G>A	XP_005267039.1:p.Ser2276Asn
XM_011535820.2:c.6821G>A	XP_011534122.1:p.Ser2274Asn
XM_017010851.2:c.6833G>A	XP_016866340.1:p.Ser2278Asn
XM_017010852.1:c.4958G>A	XP_016866341.1:p.Ser1653Asn
NM_000426.4:c.6563G>A MANE Select	NP_000417.3:p.Ser2188Asn
NM_001079823.2:c.6563G>A	NP_001073291.2:p.Ser2188Asn