Canonical Allele Identifier: CA365828278

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2031053
• ClinVar RCV Id: RCV002872162
• gnomAD v4: 6-128883312-C-T
• MyVariant Identifiers: chr6:g.129204457C>T (hg19) ; chr6:g.128883312C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.128883312C>T , CM000668.2:g.128883312C>T	GRCh38
NC_000006.11:g.129204457C>T , CM000668.1:g.129204457C>T	GRCh37
NC_000006.10:g.129246150C>T	NCBI36
NG_008678.1:g.5172C>T , LRG_409:g.5172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.67C>T	ENSP00000481744.2:p.Gln23Ter
ENST00000618192.5:c.67C>T	ENSP00000480802.2:p.Gln23Ter
ENST00000686577.1:n.133C>T
ENST00000686599.1:n.172C>T
ENST00000421865.3:c.67C>T MANE Select	ENSP00000400365.2:p.Gln23Ter
ENST00000421865.2:c.67C>T	ENSP00000400365.2:p.Gln23Ter
ENST00000617695.4:c.67C>T	ENSP00000481744.1:p.Gln23Ter
ENST00000618192.4:c.67C>T	ENSP00000480802.1:p.Gln23Ter
NM_000426.3:c.67C>T , LRG_409t1:c.67C>T	NP_000417.2:p.Gln23Ter
NM_001079823.1:c.67C>T	NP_001073291.1:p.Gln23Ter
XM_005266981.2:c.67C>T	XP_005267038.1:p.Gln23Ter
XM_005266982.2:c.67C>T	XP_005267039.1:p.Gln23Ter
XM_011535820.1:c.67C>T	XP_011534122.1:p.Gln23Ter
XM_005266981.3:c.67C>T	XP_005267038.1:p.Gln23Ter
XM_005266982.3:c.67C>T	XP_005267039.1:p.Gln23Ter
XM_011535820.2:c.67C>T	XP_011534122.1:p.Gln23Ter
XM_017010853.1:c.67C>T	XP_016866342.1:p.Gln23Ter
NM_000426.4:c.67C>T MANE Select	NP_000417.3:p.Gln23Ter
NM_001079823.2:c.67C>T	NP_001073291.2:p.Gln23Ter