Canonical Allele Identifier: CA3994968

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129512423C>A , CM000668.2:g.129512423C>A	GRCh38
NC_000006.11:g.129833568C>A , CM000668.1:g.129833568C>A	GRCh37
NC_000006.10:g.129875261C>A	NCBI36
NG_008678.1:g.634283C>A , LRG_409:g.634283C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8918C>A MANE Select	NP_000417.3:p.Thr2973Lys
ENST00000421865.3:c.8918C>A MANE Select	ENSP00000400365.2:p.Thr2973Lys
NM_000426.3:c.8918C>A , LRG_409t1:c.8918C>A	NP_000417.2:p.Thr2973Lys
NM_001079823.1:c.8906C>A	NP_001073291.1:p.Thr2969Lys
NM_001079823.2:c.8906C>A	NP_001073291.2:p.Thr2969Lys
ENST00000421865.2:c.8918C>A	ENSP00000400365.2:p.Thr2973Lys
ENST00000494137.2:c.983C>A	ENSP00000510626.1:p.Thr328Lys
ENST00000498257.6:c.983C>A	ENSP00000510533.1:p.Thr328Lys
ENST00000617695.4:c.8906C>A	ENSP00000481744.1:p.Thr2969Lys
ENST00000617695.5:c.8906C>A	ENSP00000481744.2:p.Thr2969Lys
ENST00000618192.4:c.8915C>A	ENSP00000480802.1:p.Thr2972Lys
ENST00000618192.5:c.9182C>A	ENSP00000480802.2:p.Thr3061Lys
ENST00000688198.1:n.1896C>A
ENST00000688799.1:c.983C>A	ENSP00000508458.1:p.Thr328Lys
ENST00000690858.1:n.1912C>A
ENST00000693461.1:n.1255C>A
XM_005266981.2:c.9182C>A	XP_005267038.1:p.Thr3061Lys
XM_005266981.3:c.9182C>A	XP_005267038.1:p.Thr3061Lys
XM_005266982.2:c.9170C>A	XP_005267039.1:p.Thr3057Lys
XM_005266982.3:c.9170C>A	XP_005267039.1:p.Thr3057Lys
XM_011535820.1:c.9176C>A	XP_011534122.1:p.Thr3059Lys
XM_011535820.2:c.9176C>A	XP_011534122.1:p.Thr3059Lys
XM_017010851.2:c.9188C>A	XP_016866340.1:p.Thr3063Lys
XM_017010852.1:c.7313C>A	XP_016866341.1:p.Thr2438Lys
XR_001743859.1:n.3901-9632G>T
XR_001743860.1:n.1180-9632G>T
XR_001743861.1:n.1347-9632G>T
XR_001743863.1:n.883-9632G>T
XR_002956395.1:n.9132-9632G>T
XR_002956396.1:n.3127-9632G>T
XR_942984.1:n.1461-9632G>T
XR_942985.1:n.1325-9632G>T