Canonical Allele Identifier: CA365634832

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826401C>A (hg19) ; chr6:g.129505256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505256C>A , CM000668.2:g.129505256C>A	GRCh38
NC_000006.11:g.129826401C>A , CM000668.1:g.129826401C>A	GRCh37
NC_000006.10:g.129868094C>A	NCBI36
NG_008678.1:g.627116C>A , LRG_409:g.627116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.669C>A	ENSP00000510626.1:p.Asn223Lys
ENST00000498257.6:c.669C>A	ENSP00000510533.1:p.Asn223Lys
ENST00000617695.5:c.8592C>A	ENSP00000481744.2:p.Asn2864Lys
ENST00000618192.5:c.8868C>A	ENSP00000480802.2:p.Asn2956Lys
ENST00000688198.1:n.1582C>A
ENST00000688799.1:c.669C>A	ENSP00000508458.1:p.Asn223Lys
ENST00000690858.1:n.1598C>A
ENST00000693461.1:n.941C>A
ENST00000421865.3:c.8604C>A MANE Select	ENSP00000400365.2:p.Asn2868Lys
ENST00000421865.2:c.8604C>A	ENSP00000400365.2:p.Asn2868Lys
ENST00000617695.4:c.8592C>A	ENSP00000481744.1:p.Asn2864Lys
ENST00000618192.4:c.8601C>A	ENSP00000480802.1:p.Asn2867Lys
NM_000426.3:c.8604C>A , LRG_409t1:c.8604C>A	NP_000417.2:p.Asn2868Lys
NM_001079823.1:c.8592C>A	NP_001073291.1:p.Asn2864Lys
XM_005266981.2:c.8868C>A	XP_005267038.1:p.Asn2956Lys
XM_005266982.2:c.8856C>A	XP_005267039.1:p.Asn2952Lys
XM_011535820.1:c.8862C>A	XP_011534122.1:p.Asn2954Lys
XR_942984.1:n.1461-2465G>T
XR_942985.1:n.1325-2465G>T
XM_005266981.3:c.8868C>A	XP_005267038.1:p.Asn2956Lys
XM_005266982.3:c.8856C>A	XP_005267039.1:p.Asn2952Lys
XM_011535820.2:c.8862C>A	XP_011534122.1:p.Asn2954Lys
XM_017010851.2:c.8874C>A	XP_016866340.1:p.Asn2958Lys
XM_017010852.1:c.6999C>A	XP_016866341.1:p.Asn2333Lys
XR_001743859.1:n.3901-2465G>T
XR_001743860.1:n.1180-2465G>T
XR_001743861.1:n.1347-2465G>T
XR_001743863.1:n.883-2465G>T
XR_002956395.1:n.9132-2465G>T
XR_002956396.1:n.3127-2465G>T
NM_000426.4:c.8604C>A MANE Select	NP_000417.3:p.Asn2868Lys
NM_001079823.2:c.8592C>A	NP_001073291.2:p.Asn2864Lys