Canonical Allele Identifier: CA365634898

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826432C>G (hg19) ; chr6:g.129505287C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505287C>G , CM000668.2:g.129505287C>G	GRCh38
NC_000006.11:g.129826432C>G , CM000668.1:g.129826432C>G	GRCh37
NC_000006.10:g.129868125C>G	NCBI36
NG_008678.1:g.627147C>G , LRG_409:g.627147C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.700C>G	ENSP00000510626.1:p.Leu234Val
ENST00000498257.6:c.700C>G	ENSP00000510533.1:p.Leu234Val
ENST00000617695.5:c.8623C>G	ENSP00000481744.2:p.Leu2875Val
ENST00000618192.5:c.8899C>G	ENSP00000480802.2:p.Leu2967Val
ENST00000688198.1:n.1613C>G
ENST00000688799.1:c.700C>G	ENSP00000508458.1:p.Leu234Val
ENST00000690858.1:n.1629C>G
ENST00000693461.1:n.972C>G
ENST00000421865.3:c.8635C>G MANE Select	ENSP00000400365.2:p.Leu2879Val
ENST00000421865.2:c.8635C>G	ENSP00000400365.2:p.Leu2879Val
ENST00000617695.4:c.8623C>G	ENSP00000481744.1:p.Leu2875Val
ENST00000618192.4:c.8632C>G	ENSP00000480802.1:p.Leu2878Val
NM_000426.3:c.8635C>G , LRG_409t1:c.8635C>G	NP_000417.2:p.Leu2879Val
NM_001079823.1:c.8623C>G	NP_001073291.1:p.Leu2875Val
XM_005266981.2:c.8899C>G	XP_005267038.1:p.Leu2967Val
XM_005266982.2:c.8887C>G	XP_005267039.1:p.Leu2963Val
XM_011535820.1:c.8893C>G	XP_011534122.1:p.Leu2965Val
XR_942984.1:n.1461-2496G>C
XR_942985.1:n.1325-2496G>C
XM_005266981.3:c.8899C>G	XP_005267038.1:p.Leu2967Val
XM_005266982.3:c.8887C>G	XP_005267039.1:p.Leu2963Val
XM_011535820.2:c.8893C>G	XP_011534122.1:p.Leu2965Val
XM_017010851.2:c.8905C>G	XP_016866340.1:p.Leu2969Val
XM_017010852.1:c.7030C>G	XP_016866341.1:p.Leu2344Val
XR_001743859.1:n.3901-2496G>C
XR_001743860.1:n.1180-2496G>C
XR_001743861.1:n.1347-2496G>C
XR_001743863.1:n.883-2496G>C
XR_002956395.1:n.9132-2496G>C
XR_002956396.1:n.3127-2496G>C
NM_000426.4:c.8635C>G MANE Select	NP_000417.3:p.Leu2879Val
NM_001079823.2:c.8623C>G	NP_001073291.2:p.Leu2875Val