Canonical Allele Identifier: CA238603

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 193095
• ClinVar RCV Id: RCV000173131 ; RCV000818174
• dbSNP Id: rs367622987
• ExAC: 6:129204403 G / A
• gnomAD v2: 6-129204403-G-A
• gnomAD v3: 6-128883258-G-A
• gnomAD v4: 6-128883258-G-A
• MyVariant Identifiers: chr6:g.129204403G>A (hg19) ; chr6:g.128883258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.128883258G>A , CM000668.2:g.128883258G>A	GRCh38
NC_000006.11:g.129204403G>A , CM000668.1:g.129204403G>A	GRCh37
NC_000006.10:g.129246096G>A	NCBI36
NG_008678.1:g.5118G>A , LRG_409:g.5118G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.13G>A	ENSP00000481744.2:p.Ala5Thr
ENST00000618192.5:c.13G>A	ENSP00000480802.2:p.Ala5Thr
ENST00000686577.1:n.79G>A
ENST00000686599.1:n.118G>A
ENST00000421865.3:c.13G>A MANE Select	ENSP00000400365.2:p.Ala5Thr
ENST00000421865.2:c.13G>A	ENSP00000400365.2:p.Ala5Thr
ENST00000617695.4:c.13G>A	ENSP00000481744.1:p.Ala5Thr
ENST00000618192.4:c.13G>A	ENSP00000480802.1:p.Ala5Thr
NM_000426.3:c.13G>A , LRG_409t1:c.13G>A	NP_000417.2:p.Ala5Thr
NM_001079823.1:c.13G>A	NP_001073291.1:p.Ala5Thr
XM_005266981.2:c.13G>A	XP_005267038.1:p.Ala5Thr
XM_005266982.2:c.13G>A	XP_005267039.1:p.Ala5Thr
XM_011535820.1:c.13G>A	XP_011534122.1:p.Ala5Thr
XM_005266981.3:c.13G>A	XP_005267038.1:p.Ala5Thr
XM_005266982.3:c.13G>A	XP_005267039.1:p.Ala5Thr
XM_011535820.2:c.13G>A	XP_011534122.1:p.Ala5Thr
XM_017010853.1:c.13G>A	XP_016866342.1:p.Ala5Thr
NM_000426.4:c.13G>A MANE Select	NP_000417.3:p.Ala5Thr
NM_001079823.2:c.13G>A	NP_001073291.2:p.Ala5Thr