Canonical Allele Identifier: CA365627075

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129478815T>C , CM000668.2:g.129478815T>C	GRCh38
NC_000006.11:g.129799960T>C , CM000668.1:g.129799960T>C	GRCh37
NC_000006.10:g.129841653T>C	NCBI36
NG_008678.1:g.600675T>C , LRG_409:g.600675T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7572+2T>C MANE Select	NP_000417.3:n.7572+2T>C
ENST00000421865.3:c.7572+2T>C MANE Select	ENSP00000400365.2:n.7572+2T>C
NM_000426.3:c.7572+2T>C , LRG_409t1:c.7572+2T>C	NP_000417.2:n.7572+2T>C
NM_001079823.1:c.7560+2T>C	NP_001073291.1:n.7560+2T>C
NM_001079823.2:c.7560+2T>C	NP_001073291.2:n.7560+2T>C
ENST00000421865.2:c.7572+2T>C	ENSP00000400365.2:n.7572+2T>C
ENST00000617695.4:c.7560+2T>C	ENSP00000481744.1:n.7560+2T>C
ENST00000617695.5:c.7560+2T>C	ENSP00000481744.2:n.7560+2T>C
ENST00000618192.4:c.7569+2T>C	ENSP00000480802.1:n.7569+2T>C
ENST00000618192.5:c.7836+2T>C	ENSP00000480802.2:n.7836+2T>C
XM_005266981.2:c.7836+2T>C	XP_005267038.1:n.7836+2T>C
XM_005266981.3:c.7836+2T>C	XP_005267038.1:n.7836+2T>C
XM_005266982.2:c.7824+2T>C	XP_005267039.1:n.7824+2T>C
XM_005266982.3:c.7824+2T>C	XP_005267039.1:n.7824+2T>C
XM_011535820.1:c.7830+2T>C	XP_011534122.1:n.7830+2T>C
XM_011535820.2:c.7830+2T>C	XP_011534122.1:n.7830+2T>C
XM_017010851.2:c.7842+2T>C	XP_016866340.1:n.7842+2T>C
XM_017010852.1:c.5967+2T>C	XP_016866341.1:n.5967+2T>C