Canonical Allele Identifier: CA365634500

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503277C>A , CM000668.2:g.129503277C>A	GRCh38
NC_000006.11:g.129824422C>A , CM000668.1:g.129824422C>A	GRCh37
NC_000006.10:g.129866115C>A	NCBI36
NG_008678.1:g.625137C>A , LRG_409:g.625137C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8544C>A MANE Select	NP_000417.3:p.His2848Gln
ENST00000421865.3:c.8544C>A MANE Select	ENSP00000400365.2:p.His2848Gln
NM_000426.3:c.8544C>A , LRG_409t1:c.8544C>A	NP_000417.2:p.His2848Gln
NM_001079823.1:c.8532C>A	NP_001073291.1:p.His2844Gln
NM_001079823.2:c.8532C>A	NP_001073291.2:p.His2844Gln
ENST00000421865.2:c.8544C>A	ENSP00000400365.2:p.His2848Gln
ENST00000494137.2:c.609C>A	ENSP00000510626.1:p.His203Gln
ENST00000498257.6:c.609C>A	ENSP00000510533.1:p.His203Gln
ENST00000617695.4:c.8532C>A	ENSP00000481744.1:p.His2844Gln
ENST00000617695.5:c.8532C>A	ENSP00000481744.2:p.His2844Gln
ENST00000618192.4:c.8541C>A	ENSP00000480802.1:p.His2847Gln
ENST00000618192.5:c.8808C>A	ENSP00000480802.2:p.His2936Gln
ENST00000688198.1:n.1522C>A
ENST00000688799.1:c.609C>A	ENSP00000508458.1:p.His203Gln
ENST00000690858.1:n.1538C>A
ENST00000693461.1:n.881C>A
XM_005266981.2:c.8808C>A	XP_005267038.1:p.His2936Gln
XM_005266981.3:c.8808C>A	XP_005267038.1:p.His2936Gln
XM_005266982.2:c.8796C>A	XP_005267039.1:p.His2932Gln
XM_005266982.3:c.8796C>A	XP_005267039.1:p.His2932Gln
XM_011535820.1:c.8802C>A	XP_011534122.1:p.His2934Gln
XM_011535820.2:c.8802C>A	XP_011534122.1:p.His2934Gln
XM_017010851.2:c.8814C>A	XP_016866340.1:p.His2938Gln
XM_017010852.1:c.6939C>A	XP_016866341.1:p.His2313Gln
XR_001743859.1:n.3901-486G>T
XR_001743860.1:n.1180-486G>T
XR_001743861.1:n.1347-486G>T
XR_001743863.1:n.883-486G>T
XR_002956395.1:n.9132-486G>T
XR_002956396.1:n.3127-486G>T
XR_942984.1:n.1461-486G>T
XR_942985.1:n.1325-486G>T