Canonical Allele Identifier: CA365634490

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503273G>A , CM000668.2:g.129503273G>A	GRCh38
NC_000006.11:g.129824418G>A , CM000668.1:g.129824418G>A	GRCh37
NC_000006.10:g.129866111G>A	NCBI36
NG_008678.1:g.625133G>A , LRG_409:g.625133G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8540G>A MANE Select	NP_000417.3:p.Trp2847Ter
ENST00000421865.3:c.8540G>A MANE Select	ENSP00000400365.2:p.Trp2847Ter
NM_000426.3:c.8540G>A , LRG_409t1:c.8540G>A	NP_000417.2:p.Trp2847Ter
NM_001079823.1:c.8528G>A	NP_001073291.1:p.Trp2843Ter
NM_001079823.2:c.8528G>A	NP_001073291.2:p.Trp2843Ter
ENST00000421865.2:c.8540G>A	ENSP00000400365.2:p.Trp2847Ter
ENST00000494137.2:c.605G>A	ENSP00000510626.1:p.Trp202Ter
ENST00000498257.6:c.605G>A	ENSP00000510533.1:p.Trp202Ter
ENST00000617695.4:c.8528G>A	ENSP00000481744.1:p.Trp2843Ter
ENST00000617695.5:c.8528G>A	ENSP00000481744.2:p.Trp2843Ter
ENST00000618192.4:c.8537G>A	ENSP00000480802.1:p.Trp2846Ter
ENST00000618192.5:c.8804G>A	ENSP00000480802.2:p.Trp2935Ter
ENST00000688198.1:n.1518G>A
ENST00000688799.1:c.605G>A	ENSP00000508458.1:p.Trp202Ter
ENST00000690858.1:n.1534G>A
ENST00000693461.1:n.877G>A
XM_005266981.2:c.8804G>A	XP_005267038.1:p.Trp2935Ter
XM_005266981.3:c.8804G>A	XP_005267038.1:p.Trp2935Ter
XM_005266982.2:c.8792G>A	XP_005267039.1:p.Trp2931Ter
XM_005266982.3:c.8792G>A	XP_005267039.1:p.Trp2931Ter
XM_011535820.1:c.8798G>A	XP_011534122.1:p.Trp2933Ter
XM_011535820.2:c.8798G>A	XP_011534122.1:p.Trp2933Ter
XM_017010851.2:c.8810G>A	XP_016866340.1:p.Trp2937Ter
XM_017010852.1:c.6935G>A	XP_016866341.1:p.Trp2312Ter
XR_001743859.1:n.3901-482C>T
XR_001743860.1:n.1180-482C>T
XR_001743861.1:n.1347-482C>T
XR_001743863.1:n.883-482C>T
XR_002956395.1:n.9132-482C>T
XR_002956396.1:n.3127-482C>T
XR_942984.1:n.1461-482C>T
XR_942985.1:n.1325-482C>T