Canonical Allele Identifier: CA365628429

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129802574A>T (hg19) ; chr6:g.129481429A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481429A>T , CM000668.2:g.129481429A>T	GRCh38
NC_000006.11:g.129802574A>T , CM000668.1:g.129802574A>T	GRCh37
NC_000006.10:g.129844267A>T	NCBI36
NG_008678.1:g.603289A>T , LRG_409:g.603289A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7727A>T	ENSP00000481744.2:p.Gln2576Leu
ENST00000618192.5:c.8003A>T	ENSP00000480802.2:p.Gln2668Leu
ENST00000421865.3:c.7739A>T MANE Select	ENSP00000400365.2:p.Gln2580Leu
ENST00000421865.2:c.7739A>T	ENSP00000400365.2:p.Gln2580Leu
ENST00000617695.4:c.7727A>T	ENSP00000481744.1:p.Gln2576Leu
ENST00000618192.4:c.7736A>T	ENSP00000480802.1:p.Gln2579Leu
NM_000426.3:c.7739A>T , LRG_409t1:c.7739A>T	NP_000417.2:p.Gln2580Leu
NM_001079823.1:c.7727A>T	NP_001073291.1:p.Gln2576Leu
XM_005266981.2:c.8003A>T	XP_005267038.1:p.Gln2668Leu
XM_005266982.2:c.7991A>T	XP_005267039.1:p.Gln2664Leu
XM_011535820.1:c.7997A>T	XP_011534122.1:p.Gln2666Leu
XM_005266981.3:c.8003A>T	XP_005267038.1:p.Gln2668Leu
XM_005266982.3:c.7991A>T	XP_005267039.1:p.Gln2664Leu
XM_011535820.2:c.7997A>T	XP_011534122.1:p.Gln2666Leu
XM_017010851.2:c.8009A>T	XP_016866340.1:p.Gln2670Leu
XM_017010852.1:c.6134A>T	XP_016866341.1:p.Gln2045Leu
NM_000426.4:c.7739A>T MANE Select	NP_000417.3:p.Gln2580Leu
NM_001079823.2:c.7727A>T	NP_001073291.2:p.Gln2576Leu