Canonical Allele Identifier: CA3994797

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129502758A>C , CM000668.2:g.129502758A>C	GRCh38
NC_000006.11:g.129823903A>C , CM000668.1:g.129823903A>C	GRCh37
NC_000006.10:g.129865596A>C	NCBI36
NG_008678.1:g.624618A>C , LRG_409:g.624618A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8344A>C MANE Select	NP_000417.3:p.Lys2782Gln
ENST00000421865.3:c.8344A>C MANE Select	ENSP00000400365.2:p.Lys2782Gln
NM_000426.3:c.8344A>C , LRG_409t1:c.8344A>C	NP_000417.2:p.Lys2782Gln
NM_001079823.1:c.8332A>C	NP_001073291.1:p.Lys2778Gln
NM_001079823.2:c.8332A>C	NP_001073291.2:p.Lys2778Gln
ENST00000421865.2:c.8344A>C	ENSP00000400365.2:p.Lys2782Gln
ENST00000494137.2:c.409A>C	ENSP00000510626.1:p.Lys137Gln
ENST00000498257.6:c.409A>C	ENSP00000510533.1:p.Lys137Gln
ENST00000617695.4:c.8332A>C	ENSP00000481744.1:p.Lys2778Gln
ENST00000617695.5:c.8332A>C	ENSP00000481744.2:p.Lys2778Gln
ENST00000618192.4:c.8341A>C	ENSP00000480802.1:p.Lys2781Gln
ENST00000618192.5:c.8608A>C	ENSP00000480802.2:p.Lys2870Gln
ENST00000688198.1:n.1322A>C
ENST00000688799.1:c.409A>C	ENSP00000508458.1:p.Lys137Gln
ENST00000690858.1:n.1338A>C
ENST00000693461.1:n.681A>C
XM_005266981.2:c.8608A>C	XP_005267038.1:p.Lys2870Gln
XM_005266981.3:c.8608A>C	XP_005267038.1:p.Lys2870Gln
XM_005266982.2:c.8596A>C	XP_005267039.1:p.Lys2866Gln
XM_005266982.3:c.8596A>C	XP_005267039.1:p.Lys2866Gln
XM_011535820.1:c.8602A>C	XP_011534122.1:p.Lys2868Gln
XM_011535820.2:c.8602A>C	XP_011534122.1:p.Lys2868Gln
XM_017010851.2:c.8614A>C	XP_016866340.1:p.Lys2872Gln
XM_017010852.1:c.6739A>C	XP_016866341.1:p.Lys2247Gln
XR_001743859.1:n.3934T>G
XR_001743860.1:n.1213T>G
XR_001743861.1:n.1380T>G
XR_001743863.1:n.916T>G
XR_002956395.1:n.9165T>G
XR_002956396.1:n.3160T>G
XR_942984.1:n.1494T>G
XR_942985.1:n.1358T>G