Canonical Allele Identifier: CA146925639

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129507555C>T , CM000668.2:g.129507555C>T	GRCh38
NC_000006.11:g.129828700C>T , CM000668.1:g.129828700C>T	GRCh37
NC_000006.10:g.129870393C>T	NCBI36
NG_008678.1:g.629415C>T , LRG_409:g.629415C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8770C>T MANE Select	NP_000417.3:p.Gln2924Ter
ENST00000421865.3:c.8770C>T MANE Select	ENSP00000400365.2:p.Gln2924Ter
NM_000426.3:c.8770C>T , LRG_409t1:c.8770C>T	NP_000417.2:p.Gln2924Ter
NM_001079823.1:c.8758C>T	NP_001073291.1:p.Gln2920Ter
NM_001079823.2:c.8758C>T	NP_001073291.2:p.Gln2920Ter
ENST00000421865.2:c.8770C>T	ENSP00000400365.2:p.Gln2924Ter
ENST00000494137.2:c.835C>T	ENSP00000510626.1:p.Gln279Ter
ENST00000498257.6:c.835C>T	ENSP00000510533.1:p.Gln279Ter
ENST00000617695.4:c.8758C>T	ENSP00000481744.1:p.Gln2920Ter
ENST00000617695.5:c.8758C>T	ENSP00000481744.2:p.Gln2920Ter
ENST00000618192.4:c.8767C>T	ENSP00000480802.1:p.Gln2923Ter
ENST00000618192.5:c.9034C>T	ENSP00000480802.2:p.Gln3012Ter
ENST00000688198.1:n.1748C>T
ENST00000688799.1:c.835C>T	ENSP00000508458.1:p.Gln279Ter
ENST00000690858.1:n.1764C>T
ENST00000693461.1:n.1107C>T
XM_005266981.2:c.9034C>T	XP_005267038.1:p.Gln3012Ter
XM_005266981.3:c.9034C>T	XP_005267038.1:p.Gln3012Ter
XM_005266982.2:c.9022C>T	XP_005267039.1:p.Gln3008Ter
XM_005266982.3:c.9022C>T	XP_005267039.1:p.Gln3008Ter
XM_011535820.1:c.9028C>T	XP_011534122.1:p.Gln3010Ter
XM_011535820.2:c.9028C>T	XP_011534122.1:p.Gln3010Ter
XM_017010851.2:c.9040C>T	XP_016866340.1:p.Gln3014Ter
XM_017010852.1:c.7165C>T	XP_016866341.1:p.Gln2389Ter
XR_001743859.1:n.3901-4764G>A
XR_001743860.1:n.1180-4764G>A
XR_001743861.1:n.1347-4764G>A
XR_001743863.1:n.883-4764G>A
XR_002956395.1:n.9132-4764G>A
XR_002956396.1:n.3127-4764G>A
XR_942984.1:n.1461-4764G>A
XR_942985.1:n.1325-4764G>A