Canonical Allele Identifier: CA365634884

Gene: LAMA2

Linked Data

• dbSNP Id: rs1177454714
• gnomAD v2: 6-129826426-G-A
• gnomAD v3: 6-129505281-G-A
• gnomAD v4: 6-129505281-G-A
• MyVariant Identifiers: chr6:g.129826426G>A (hg19) ; chr6:g.129505281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505281G>A , CM000668.2:g.129505281G>A	GRCh38
NC_000006.11:g.129826426G>A , CM000668.1:g.129826426G>A	GRCh37
NC_000006.10:g.129868119G>A	NCBI36
NG_008678.1:g.627141G>A , LRG_409:g.627141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.694G>A	ENSP00000510626.1:p.Asp232Asn
ENST00000498257.6:c.694G>A	ENSP00000510533.1:p.Asp232Asn
ENST00000617695.5:c.8617G>A	ENSP00000481744.2:p.Asp2873Asn
ENST00000618192.5:c.8893G>A	ENSP00000480802.2:p.Asp2965Asn
ENST00000688198.1:n.1607G>A
ENST00000688799.1:c.694G>A	ENSP00000508458.1:p.Asp232Asn
ENST00000690858.1:n.1623G>A
ENST00000693461.1:n.966G>A
ENST00000421865.3:c.8629G>A MANE Select	ENSP00000400365.2:p.Asp2877Asn
ENST00000421865.2:c.8629G>A	ENSP00000400365.2:p.Asp2877Asn
ENST00000617695.4:c.8617G>A	ENSP00000481744.1:p.Asp2873Asn
ENST00000618192.4:c.8626G>A	ENSP00000480802.1:p.Asp2876Asn
NM_000426.3:c.8629G>A , LRG_409t1:c.8629G>A	NP_000417.2:p.Asp2877Asn
NM_001079823.1:c.8617G>A	NP_001073291.1:p.Asp2873Asn
XM_005266981.2:c.8893G>A	XP_005267038.1:p.Asp2965Asn
XM_005266982.2:c.8881G>A	XP_005267039.1:p.Asp2961Asn
XM_011535820.1:c.8887G>A	XP_011534122.1:p.Asp2963Asn
XR_942984.1:n.1461-2490C>T
XR_942985.1:n.1325-2490C>T
XM_005266981.3:c.8893G>A	XP_005267038.1:p.Asp2965Asn
XM_005266982.3:c.8881G>A	XP_005267039.1:p.Asp2961Asn
XM_011535820.2:c.8887G>A	XP_011534122.1:p.Asp2963Asn
XM_017010851.2:c.8899G>A	XP_016866340.1:p.Asp2967Asn
XM_017010852.1:c.7024G>A	XP_016866341.1:p.Asp2342Asn
XR_001743859.1:n.3901-2490C>T
XR_001743860.1:n.1180-2490C>T
XR_001743861.1:n.1347-2490C>T
XR_001743863.1:n.883-2490C>T
XR_002956395.1:n.9132-2490C>T
XR_002956396.1:n.3127-2490C>T
NM_000426.4:c.8629G>A MANE Select	NP_000417.3:p.Asp2877Asn
NM_001079823.2:c.8617G>A	NP_001073291.2:p.Asp2873Asn