Canonical Allele Identifier: CA365611134

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129297789-C-G
• MyVariant Identifiers: chr6:g.129618934C>G (hg19) ; chr6:g.129297789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297789C>G , CM000668.2:g.129297789C>G	GRCh38
NC_000006.11:g.129618934C>G , CM000668.1:g.129618934C>G	GRCh37
NC_000006.10:g.129660627C>G	NCBI36
NG_008678.1:g.419649C>G , LRG_409:g.419649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.2961C>G	ENSP00000481744.2:p.Cys987Trp
ENST00000618192.5:c.3225C>G	ENSP00000480802.2:p.Cys1075Trp
ENST00000421865.3:c.2961C>G MANE Select	ENSP00000400365.2:p.Cys987Trp
ENST00000645154.1:c.476C>G
ENST00000421865.2:c.2961C>G	ENSP00000400365.2:p.Cys987Trp
ENST00000617695.4:c.2961C>G	ENSP00000481744.1:p.Cys987Trp
ENST00000618192.4:c.2961C>G	ENSP00000480802.1:p.Cys987Trp
NM_000426.3:c.2961C>G , LRG_409t1:c.2961C>G	NP_000417.2:p.Cys987Trp
NM_001079823.1:c.2961C>G	NP_001073291.1:p.Cys987Trp
XM_005266981.2:c.3225C>G	XP_005267038.1:p.Cys1075Trp
XM_005266982.2:c.3225C>G	XP_005267039.1:p.Cys1075Trp
XM_011535820.1:c.3225C>G	XP_011534122.1:p.Cys1075Trp
XM_005266981.3:c.3225C>G	XP_005267038.1:p.Cys1075Trp
XM_005266982.3:c.3225C>G	XP_005267039.1:p.Cys1075Trp
XM_011535820.2:c.3225C>G	XP_011534122.1:p.Cys1075Trp
XM_017010851.2:c.3231C>G	XP_016866340.1:p.Cys1077Trp
XM_017010852.1:c.1356C>G	XP_016866341.1:p.Cys452Trp
XM_017010853.1:c.3225C>G	XP_016866342.1:p.Cys1075Trp
NM_000426.4:c.2961C>G MANE Select	NP_000417.3:p.Cys987Trp
NM_001079823.2:c.2961C>G	NP_001073291.2:p.Cys987Trp