Canonical Allele Identifier: CA3994599

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129478808C>G , CM000668.2:g.129478808C>G	GRCh38
NC_000006.11:g.129799953C>G , CM000668.1:g.129799953C>G	GRCh37
NC_000006.10:g.129841646C>G	NCBI36
NG_008678.1:g.600668C>G , LRG_409:g.600668C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7567C>G MANE Select	NP_000417.3:p.Leu2523Val
ENST00000421865.3:c.7567C>G MANE Select	ENSP00000400365.2:p.Leu2523Val
NM_000426.3:c.7567C>G , LRG_409t1:c.7567C>G	NP_000417.2:p.Leu2523Val
NM_001079823.1:c.7555C>G	NP_001073291.1:p.Leu2519Val
NM_001079823.2:c.7555C>G	NP_001073291.2:p.Leu2519Val
ENST00000421865.2:c.7567C>G	ENSP00000400365.2:p.Leu2523Val
ENST00000617695.4:c.7555C>G	ENSP00000481744.1:p.Leu2519Val
ENST00000617695.5:c.7555C>G	ENSP00000481744.2:p.Leu2519Val
ENST00000618192.4:c.7564C>G	ENSP00000480802.1:p.Leu2522Val
ENST00000618192.5:c.7831C>G	ENSP00000480802.2:p.Leu2611Val
XM_005266981.2:c.7831C>G	XP_005267038.1:p.Leu2611Val
XM_005266981.3:c.7831C>G	XP_005267038.1:p.Leu2611Val
XM_005266982.2:c.7819C>G	XP_005267039.1:p.Leu2607Val
XM_005266982.3:c.7819C>G	XP_005267039.1:p.Leu2607Val
XM_011535820.1:c.7825C>G	XP_011534122.1:p.Leu2609Val
XM_011535820.2:c.7825C>G	XP_011534122.1:p.Leu2609Val
XM_017010851.2:c.7837C>G	XP_016866340.1:p.Leu2613Val
XM_017010852.1:c.5962C>G	XP_016866341.1:p.Leu1988Val